التفاصيل البيبلوغرافية
| العنوان: |
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type |
| المؤلفون: |
E. Richard, S. Brasil, A. Briso-Montiano, E. Alonso-Barroso, M.E. Gallardo, B. Merinero, M. Ugarte, L.R. Desviat, B. Pérez |
| المصدر: |
Stem Cell Research, Vol 29, Iss , Pp 143-147 (2018) |
| بيانات النشر: |
Elsevier, 2018. |
| سنة النشر: |
2018 |
| المجموعة: |
LCC:Biology (General) |
| مصطلحات موضوعية: |
Biology (General), QH301-705.5 |
| الوصف: |
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. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1873-5061 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S1873506118300990; https://doaj.org/toc/1873-5061 |
| DOI: |
10.1016/j.scr.2018.03.021 |
| URL الوصول: |
https://doaj.org/article/56f075b8df794b9e944a1a76d417ec71 |
| رقم الانضمام: |
edsdoj.56f075b8df794b9e944a1a76d417ec71 |
| قاعدة البيانات: |
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