Establishment of iPSC lines and zebrafish with loss-of-function
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripote...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Carvalho, Laura Machado Lara [verfasserIn] Branco, Elisa Varella [verfasserIn] Sarafian, Raquel Delgado [verfasserIn] Kobayashi, Gerson Shigeru [verfasserIn] de Araújo, Fabiano Tófoli [verfasserIn] Santos Souza, Lucas [verfasserIn] Moreira, Danielle de Paula [verfasserIn] Hsia, Gabriella Shih Ping [verfasserIn] Bertollo, Eny Maria Goloni [verfasserIn] Buck, Cecília Barbosa [verfasserIn] da Costa, Silvia Souza [verfasserIn] Fialho, Davi Mendes [verfasserIn] de Vasconcelos, Felipe Tadeu Galante Rocha [verfasserIn] Brito, Luciano Abreu [verfasserIn] de Souza Fraga Machado, Luciana Elena [verfasserIn] Ramos, Igor Cabreira [verfasserIn] Pereira, Lygia da Veiga [verfasserIn] Koiffmann, Celia Priszkulnik [verfasserIn] e Passos-Bueno, Maria Rita dos Santos [verfasserIn] Oliveira Mendes, Tiago Antonio de [verfasserIn] Krepischi, Ana Cristina Victorino [verfasserIn] Rosenberg, Carla [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2023 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Gene - Amsterdam : Elsevier, 1976, 871 |
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| Übergeordnetes Werk: |
volume:871 |
| DOI / URN: |
10.1016/j.gene.2023.147424 |
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| Katalog-ID: |
ELV009791205 |
|---|
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| 245 | 1 | 0 | |a Establishment of iPSC lines and zebrafish with loss-of-function |
| 264 | 1 | |c 2023 | |
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| 520 | |a Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. | ||
| 650 | 4 | |a Xia-Gibbs syndrome | |
| 650 | 4 | |a Neurodevelopment | |
| 650 | 4 | |a iPSC | |
| 650 | 4 | |a Zebrafish | |
| 650 | 4 | |a CRISPR–Cas9 | |
| 700 | 1 | |a Branco, Elisa Varella |e verfasserin |4 aut | |
| 700 | 1 | |a Sarafian, Raquel Delgado |e verfasserin |4 aut | |
| 700 | 1 | |a Kobayashi, Gerson Shigeru |e verfasserin |4 aut | |
| 700 | 1 | |a de Araújo, Fabiano Tófoli |e verfasserin |4 aut | |
| 700 | 1 | |a Santos Souza, Lucas |e verfasserin |4 aut | |
| 700 | 1 | |a Moreira, Danielle de Paula |e verfasserin |4 aut | |
| 700 | 1 | |a Hsia, Gabriella Shih Ping |e verfasserin |4 aut | |
| 700 | 1 | |a Bertollo, Eny Maria Goloni |e verfasserin |4 aut | |
| 700 | 1 | |a Buck, Cecília Barbosa |e verfasserin |4 aut | |
| 700 | 1 | |a da Costa, Silvia Souza |e verfasserin |4 aut | |
| 700 | 1 | |a Fialho, Davi Mendes |e verfasserin |4 aut | |
| 700 | 1 | |a de Vasconcelos, Felipe Tadeu Galante Rocha |e verfasserin |4 aut | |
| 700 | 1 | |a Brito, Luciano Abreu |e verfasserin |4 aut | |
| 700 | 1 | |a de Souza Fraga Machado, Luciana Elena |e verfasserin |4 aut | |
| 700 | 1 | |a Ramos, Igor Cabreira |e verfasserin |4 aut | |
| 700 | 1 | |a Pereira, Lygia da Veiga |e verfasserin |4 aut | |
| 700 | 1 | |a Koiffmann, Celia Priszkulnik |e verfasserin |4 aut | |
| 700 | 1 | |a e Passos-Bueno, Maria Rita dos Santos |e verfasserin |4 aut | |
| 700 | 1 | |a Oliveira Mendes, Tiago Antonio de |e verfasserin |4 aut | |
| 700 | 1 | |a Krepischi, Ana Cristina Victorino |e verfasserin |4 aut | |
| 700 | 1 | |a Rosenberg, Carla |e verfasserin |0 (orcid)0000-0003-3253-4448 |4 aut | |
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10.1016/j.gene.2023.147424 doi (DE-627)ELV009791205 (ELSEVIER)S0378-1119(23)00265-2 DE-627 ger DE-627 rda eng 570 VZ BIODIV DE-30 fid 42.00 bkl Carvalho, Laura Machado Lara verfasserin aut Establishment of iPSC lines and zebrafish with loss-of-function 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. Xia-Gibbs syndrome Neurodevelopment iPSC Zebrafish CRISPR–Cas9 Branco, Elisa Varella verfasserin aut Sarafian, Raquel Delgado verfasserin aut Kobayashi, Gerson Shigeru verfasserin aut de Araújo, Fabiano Tófoli verfasserin aut Santos Souza, Lucas verfasserin aut Moreira, Danielle de Paula verfasserin aut Hsia, Gabriella Shih Ping verfasserin aut Bertollo, Eny Maria Goloni verfasserin aut Buck, Cecília Barbosa verfasserin aut da Costa, Silvia Souza verfasserin aut Fialho, Davi Mendes verfasserin aut de Vasconcelos, Felipe Tadeu Galante Rocha verfasserin aut Brito, Luciano Abreu verfasserin aut de Souza Fraga Machado, Luciana Elena verfasserin aut Ramos, Igor Cabreira verfasserin aut Pereira, Lygia da Veiga verfasserin aut Koiffmann, Celia Priszkulnik verfasserin aut e Passos-Bueno, Maria Rita dos Santos verfasserin aut Oliveira Mendes, Tiago Antonio de verfasserin aut Krepischi, Ana Cristina Victorino verfasserin aut Rosenberg, Carla verfasserin (orcid)0000-0003-3253-4448 aut Enthalten in Gene Amsterdam : Elsevier, 1976 871 Online-Ressource (DE-627)302200118 (DE-600)1491012-3 (DE-576)079599818 1879-0038 nnns volume:871 GBV_USEFLAG_U SYSFLAG_U GBV_ELV FID-BIODIV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.00 Biologie: Allgemeines VZ AR 871 |
| spelling |
10.1016/j.gene.2023.147424 doi (DE-627)ELV009791205 (ELSEVIER)S0378-1119(23)00265-2 DE-627 ger DE-627 rda eng 570 VZ BIODIV DE-30 fid 42.00 bkl Carvalho, Laura Machado Lara verfasserin aut Establishment of iPSC lines and zebrafish with loss-of-function 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. Xia-Gibbs syndrome Neurodevelopment iPSC Zebrafish CRISPR–Cas9 Branco, Elisa Varella verfasserin aut Sarafian, Raquel Delgado verfasserin aut Kobayashi, Gerson Shigeru verfasserin aut de Araújo, Fabiano Tófoli verfasserin aut Santos Souza, Lucas verfasserin aut Moreira, Danielle de Paula verfasserin aut Hsia, Gabriella Shih Ping verfasserin aut Bertollo, Eny Maria Goloni verfasserin aut Buck, Cecília Barbosa verfasserin aut da Costa, Silvia Souza verfasserin aut Fialho, Davi Mendes verfasserin aut de Vasconcelos, Felipe Tadeu Galante Rocha verfasserin aut Brito, Luciano Abreu verfasserin aut de Souza Fraga Machado, Luciana Elena verfasserin aut Ramos, Igor Cabreira verfasserin aut Pereira, Lygia da Veiga verfasserin aut Koiffmann, Celia Priszkulnik verfasserin aut e Passos-Bueno, Maria Rita dos Santos verfasserin aut Oliveira Mendes, Tiago Antonio de verfasserin aut Krepischi, Ana Cristina Victorino verfasserin aut Rosenberg, Carla verfasserin (orcid)0000-0003-3253-4448 aut Enthalten in Gene Amsterdam : Elsevier, 1976 871 Online-Ressource (DE-627)302200118 (DE-600)1491012-3 (DE-576)079599818 1879-0038 nnns volume:871 GBV_USEFLAG_U SYSFLAG_U GBV_ELV FID-BIODIV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.00 Biologie: Allgemeines VZ AR 871 |
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10.1016/j.gene.2023.147424 doi (DE-627)ELV009791205 (ELSEVIER)S0378-1119(23)00265-2 DE-627 ger DE-627 rda eng 570 VZ BIODIV DE-30 fid 42.00 bkl Carvalho, Laura Machado Lara verfasserin aut Establishment of iPSC lines and zebrafish with loss-of-function 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. Xia-Gibbs syndrome Neurodevelopment iPSC Zebrafish CRISPR–Cas9 Branco, Elisa Varella verfasserin aut Sarafian, Raquel Delgado verfasserin aut Kobayashi, Gerson Shigeru verfasserin aut de Araújo, Fabiano Tófoli verfasserin aut Santos Souza, Lucas verfasserin aut Moreira, Danielle de Paula verfasserin aut Hsia, Gabriella Shih Ping verfasserin aut Bertollo, Eny Maria Goloni verfasserin aut Buck, Cecília Barbosa verfasserin aut da Costa, Silvia Souza verfasserin aut Fialho, Davi Mendes verfasserin aut de Vasconcelos, Felipe Tadeu Galante Rocha verfasserin aut Brito, Luciano Abreu verfasserin aut de Souza Fraga Machado, Luciana Elena verfasserin aut Ramos, Igor Cabreira verfasserin aut Pereira, Lygia da Veiga verfasserin aut Koiffmann, Celia Priszkulnik verfasserin aut e Passos-Bueno, Maria Rita dos Santos verfasserin aut Oliveira Mendes, Tiago Antonio de verfasserin aut Krepischi, Ana Cristina Victorino verfasserin aut Rosenberg, Carla verfasserin (orcid)0000-0003-3253-4448 aut Enthalten in Gene Amsterdam : Elsevier, 1976 871 Online-Ressource (DE-627)302200118 (DE-600)1491012-3 (DE-576)079599818 1879-0038 nnns volume:871 GBV_USEFLAG_U SYSFLAG_U GBV_ELV FID-BIODIV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.00 Biologie: Allgemeines VZ AR 871 |
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10.1016/j.gene.2023.147424 doi (DE-627)ELV009791205 (ELSEVIER)S0378-1119(23)00265-2 DE-627 ger DE-627 rda eng 570 VZ BIODIV DE-30 fid 42.00 bkl Carvalho, Laura Machado Lara verfasserin aut Establishment of iPSC lines and zebrafish with loss-of-function 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. Xia-Gibbs syndrome Neurodevelopment iPSC Zebrafish CRISPR–Cas9 Branco, Elisa Varella verfasserin aut Sarafian, Raquel Delgado verfasserin aut Kobayashi, Gerson Shigeru verfasserin aut de Araújo, Fabiano Tófoli verfasserin aut Santos Souza, Lucas verfasserin aut Moreira, Danielle de Paula verfasserin aut Hsia, Gabriella Shih Ping verfasserin aut Bertollo, Eny Maria Goloni verfasserin aut Buck, Cecília Barbosa verfasserin aut da Costa, Silvia Souza verfasserin aut Fialho, Davi Mendes verfasserin aut de Vasconcelos, Felipe Tadeu Galante Rocha verfasserin aut Brito, Luciano Abreu verfasserin aut de Souza Fraga Machado, Luciana Elena verfasserin aut Ramos, Igor Cabreira verfasserin aut Pereira, Lygia da Veiga verfasserin aut Koiffmann, Celia Priszkulnik verfasserin aut e Passos-Bueno, Maria Rita dos Santos verfasserin aut Oliveira Mendes, Tiago Antonio de verfasserin aut Krepischi, Ana Cristina Victorino verfasserin aut Rosenberg, Carla verfasserin (orcid)0000-0003-3253-4448 aut Enthalten in Gene Amsterdam : Elsevier, 1976 871 Online-Ressource (DE-627)302200118 (DE-600)1491012-3 (DE-576)079599818 1879-0038 nnns volume:871 GBV_USEFLAG_U SYSFLAG_U GBV_ELV FID-BIODIV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.00 Biologie: Allgemeines VZ AR 871 |
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10.1016/j.gene.2023.147424 doi (DE-627)ELV009791205 (ELSEVIER)S0378-1119(23)00265-2 DE-627 ger DE-627 rda eng 570 VZ BIODIV DE-30 fid 42.00 bkl Carvalho, Laura Machado Lara verfasserin aut Establishment of iPSC lines and zebrafish with loss-of-function 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. Xia-Gibbs syndrome Neurodevelopment iPSC Zebrafish CRISPR–Cas9 Branco, Elisa Varella verfasserin aut Sarafian, Raquel Delgado verfasserin aut Kobayashi, Gerson Shigeru verfasserin aut de Araújo, Fabiano Tófoli verfasserin aut Santos Souza, Lucas verfasserin aut Moreira, Danielle de Paula verfasserin aut Hsia, Gabriella Shih Ping verfasserin aut Bertollo, Eny Maria Goloni verfasserin aut Buck, Cecília Barbosa verfasserin aut da Costa, Silvia Souza verfasserin aut Fialho, Davi Mendes verfasserin aut de Vasconcelos, Felipe Tadeu Galante Rocha verfasserin aut Brito, Luciano Abreu verfasserin aut de Souza Fraga Machado, Luciana Elena verfasserin aut Ramos, Igor Cabreira verfasserin aut Pereira, Lygia da Veiga verfasserin aut Koiffmann, Celia Priszkulnik verfasserin aut e Passos-Bueno, Maria Rita dos Santos verfasserin aut Oliveira Mendes, Tiago Antonio de verfasserin aut Krepischi, Ana Cristina Victorino verfasserin aut Rosenberg, Carla verfasserin (orcid)0000-0003-3253-4448 aut Enthalten in Gene Amsterdam : Elsevier, 1976 871 Online-Ressource (DE-627)302200118 (DE-600)1491012-3 (DE-576)079599818 1879-0038 nnns volume:871 GBV_USEFLAG_U SYSFLAG_U GBV_ELV FID-BIODIV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.00 Biologie: Allgemeines VZ AR 871 |
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Carvalho, Laura Machado Lara @@aut@@ Branco, Elisa Varella @@aut@@ Sarafian, Raquel Delgado @@aut@@ Kobayashi, Gerson Shigeru @@aut@@ de Araújo, Fabiano Tófoli @@aut@@ Santos Souza, Lucas @@aut@@ Moreira, Danielle de Paula @@aut@@ Hsia, Gabriella Shih Ping @@aut@@ Bertollo, Eny Maria Goloni @@aut@@ Buck, Cecília Barbosa @@aut@@ da Costa, Silvia Souza @@aut@@ Fialho, Davi Mendes @@aut@@ de Vasconcelos, Felipe Tadeu Galante Rocha @@aut@@ Brito, Luciano Abreu @@aut@@ de Souza Fraga Machado, Luciana Elena @@aut@@ Ramos, Igor Cabreira @@aut@@ Pereira, Lygia da Veiga @@aut@@ Koiffmann, Celia Priszkulnik @@aut@@ e Passos-Bueno, Maria Rita dos Santos @@aut@@ Oliveira Mendes, Tiago Antonio de @@aut@@ Krepischi, Ana Cristina Victorino @@aut@@ Rosenberg, Carla @@aut@@ |
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In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. 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Carvalho, Laura Machado Lara |
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Carvalho, Laura Machado Lara ddc 570 fid BIODIV bkl 42.00 misc Xia-Gibbs syndrome misc Neurodevelopment misc iPSC misc Zebrafish misc CRISPR–Cas9 Establishment of iPSC lines and zebrafish with loss-of-function |
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570 VZ BIODIV DE-30 fid 42.00 bkl Establishment of iPSC lines and zebrafish with loss-of-function Xia-Gibbs syndrome Neurodevelopment iPSC Zebrafish CRISPR–Cas9 |
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Establishment of iPSC lines and zebrafish with loss-of-function |
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Carvalho, Laura Machado Lara Branco, Elisa Varella Sarafian, Raquel Delgado Kobayashi, Gerson Shigeru de Araújo, Fabiano Tófoli Santos Souza, Lucas Moreira, Danielle de Paula Hsia, Gabriella Shih Ping Bertollo, Eny Maria Goloni Buck, Cecília Barbosa da Costa, Silvia Souza Fialho, Davi Mendes de Vasconcelos, Felipe Tadeu Galante Rocha Brito, Luciano Abreu de Souza Fraga Machado, Luciana Elena Ramos, Igor Cabreira Pereira, Lygia da Veiga Koiffmann, Celia Priszkulnik e Passos-Bueno, Maria Rita dos Santos Oliveira Mendes, Tiago Antonio de Krepischi, Ana Cristina Victorino Rosenberg, Carla |
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establishment of ipsc lines and zebrafish with loss-of-function |
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Establishment of iPSC lines and zebrafish with loss-of-function |
| abstract |
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. |
| abstractGer |
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. |
| abstract_unstemmed |
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional models: three induced pluripotent stem cell (iPSC) lines with different loss-of-function (LoF) AHDC1 variants, derived by reprogramming peripheral blood mononuclear cells from XGS patients, and a zebrafish strain with a LoF variant in the ortholog gene (ahdc1) obtained through CRISPR/Cas9-mediated editing. The three iPSC lines showed expression of pluripotency factors (SOX2, SSEA-4, OCT3/4, and NANOG). To verify the capacity of iPSC to differentiate into the three germ layers, we obtained embryoid bodies (EBs), induced their differentiation, and confirmed the mRNA expression of ectodermal, mesodermal, and endodermal markers using the TaqMan hPSC Scorecard. The iPSC lines were also approved for the following quality tests: chromosomal microarray analysis (CMA), mycoplasma testing, and short tandem repeat (STR) DNA profiling. The zebrafish model has an insertion of four base pairs in the ahdc1 gene, is fertile, and breeding between heterozygous and wild-type (WT) animals generated offspring in a genotypic proportion in agreement with Mendelian law. The established iPSC and zebrafish lines were deposited on the hpscreg.eu and zfin.org platforms, respectively. These biological models are the first for XGS and will be used in future studies that investigate the pathophysiology of this syndrome, unraveling its underlying molecular mechanisms. |
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| title_short |
Establishment of iPSC lines and zebrafish with loss-of-function |
| remote_bool |
true |
| author2 |
Branco, Elisa Varella Sarafian, Raquel Delgado Kobayashi, Gerson Shigeru de Araújo, Fabiano Tófoli Santos Souza, Lucas Moreira, Danielle de Paula Hsia, Gabriella Shih Ping Bertollo, Eny Maria Goloni Buck, Cecília Barbosa da Costa, Silvia Souza Fialho, Davi Mendes de Vasconcelos, Felipe Tadeu Galante Rocha Brito, Luciano Abreu de Souza Fraga Machado, Luciana Elena Ramos, Igor Cabreira Pereira, Lygia da Veiga Koiffmann, Celia Priszkulnik e Passos-Bueno, Maria Rita dos Santos Oliveira Mendes, Tiago Antonio de Krepischi, Ana Cristina Victorino Rosenberg, Carla |
| author2Str |
Branco, Elisa Varella Sarafian, Raquel Delgado Kobayashi, Gerson Shigeru de Araújo, Fabiano Tófoli Santos Souza, Lucas Moreira, Danielle de Paula Hsia, Gabriella Shih Ping Bertollo, Eny Maria Goloni Buck, Cecília Barbosa da Costa, Silvia Souza Fialho, Davi Mendes de Vasconcelos, Felipe Tadeu Galante Rocha Brito, Luciano Abreu de Souza Fraga Machado, Luciana Elena Ramos, Igor Cabreira Pereira, Lygia da Veiga Koiffmann, Celia Priszkulnik e Passos-Bueno, Maria Rita dos Santos Oliveira Mendes, Tiago Antonio de Krepischi, Ana Cristina Victorino Rosenberg, Carla |
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| doi_str |
10.1016/j.gene.2023.147424 |
| up_date |
2024-07-07T00:22:02.270Z |
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