Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene
Summary
Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430--?_1643+?del; p.(Gly477Glufs*9). 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 © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Alonso-Barroso E, Brasil S, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2017 Aug;23:173-177 |
| PubMed | 28925364 |
| DOI | 10.1016/j.scr.2017.07.021 |