Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

因 PCCA 基因缺陷导致丙酸血症的患者体内人类 iPSC 系的生成和表征

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作者：Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R Desviat, Eva Richard

期刊：

Stem Cell Research

影响因子：

0.800

时间：

2017

起止号：

2017 Aug:23:173-177.

doi：

10.1016/j.scr.2017.07.021

种属：

Human

研究方向：

信号转导

Abstract

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.

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