Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Se...
Ausführliche Beschreibung
Gespeichert in:
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Richard, E. [verfasserIn] |
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E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018 |
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| Umfang: |
5 |
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| Übergeordnetes Werk: |
Enthalten in: Risk of cardiovascular disease after radiotherapy in survivors of breast cancer: A case-cohort study - Hamood, Rola ELSEVIER, 2018, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:29 ; year:2018 ; pages:143-147 ; extent:5 |
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| DOI / URN: |
10.1016/j.scr.2018.03.021 |
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| 520 | |a Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. | ||
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| 700 | 1 | |a Ugarte, M. |4 oth | |
| 700 | 1 | |a Desviat, L.R. |4 oth | |
| 700 | 1 | |a Pérez, B. |4 oth | |
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10.1016/j.scr.2018.03.021 doi GBV00000000000259A.pica (DE-627)ELV043443893 (ELSEVIER)S1873-5061(18)30099-0 DE-627 ger DE-627 rakwb eng 570 570 DE-600 610 VZ 44.85 bkl Richard, E. verfasserin aut Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type 2018 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. Brasil, S. oth Briso-Montiano, A. oth Alonso-Barroso, E. oth Gallardo, M.E. oth Merinero, B. oth Ugarte, M. oth Desviat, L.R. oth Pérez, B. oth Enthalten in Elsevier Hamood, Rola ELSEVIER Risk of cardiovascular disease after radiotherapy in survivors of breast cancer: A case-cohort study 2018 Amsterdam [u.a.] (DE-627)ELV001654470 volume:29 year:2018 pages:143-147 extent:5 https://doi.org/10.1016/j.scr.2018.03.021 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.85 Kardiologie Angiologie VZ AR 29 2018 143-147 5 045F 570 |
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10.1016/j.scr.2018.03.021 doi GBV00000000000259A.pica (DE-627)ELV043443893 (ELSEVIER)S1873-5061(18)30099-0 DE-627 ger DE-627 rakwb eng 570 570 DE-600 610 VZ 44.85 bkl Richard, E. verfasserin aut Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type 2018 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. Brasil, S. oth Briso-Montiano, A. oth Alonso-Barroso, E. oth Gallardo, M.E. oth Merinero, B. oth Ugarte, M. oth Desviat, L.R. oth Pérez, B. oth Enthalten in Elsevier Hamood, Rola ELSEVIER Risk of cardiovascular disease after radiotherapy in survivors of breast cancer: A case-cohort study 2018 Amsterdam [u.a.] (DE-627)ELV001654470 volume:29 year:2018 pages:143-147 extent:5 https://doi.org/10.1016/j.scr.2018.03.021 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.85 Kardiologie Angiologie VZ AR 29 2018 143-147 5 045F 570 |
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Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type |
| abstract |
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. |
| abstractGer |
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. |
| abstract_unstemmed |
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. |
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Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type |
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Brasil, S. Briso-Montiano, A. Alonso-Barroso, E. Gallardo, M.E. Merinero, B. Ugarte, M. Desviat, L.R. Pérez, B. |
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