Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.

Authors :: López-Márquez A
Alonso-Barroso E
Cerro-Tello G
Bravo-Alonso I
Arribas-Carreira L
Briso-Montiano Á
Navarrete R
Pérez-Cerdá C
Ugarte M
Pérez B
Desviat LR
Richard E
Source :: Stem cell research [Stem Cell Res] 2019 Jul; Vol. 38, pp. 101469. Date of Electronic Publication: 2019 May 22.
Publication Year :: 2019
Abstract: A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218&#95;1231del14ins12 (p.G407 fs)) in the PCCB gene. 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. The generated iPSC line represents a useful tool to study the pathomechanisms underlying the deficiency.<br /> (Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.)

Subjects :: Cell Line
Humans
Kruppel-Like Factor 4
Homozygote
Induced Pluripotent Stem Cells enzymology
Induced Pluripotent Stem Cells pathology
Methylmalonyl-CoA Decarboxylase genetics
Methylmalonyl-CoA Decarboxylase metabolism
Mutation
Propionic Acidemia enzymology
Propionic Acidemia genetics
Propionic Acidemia pathology

Full Text Access

Tools