Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
Summary
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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Richard E, Brasil S, Briso-Montiano A, Alonso-Barroso E, Gallardo ME, Merinero B, Ugarte M, Desviat LR, Pérez B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 May;29:143-147 |
| PubMed | 29660608 |
| DOI | 10.1016/j.scr.2018.03.021 |