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

López-Márquez, Arístides; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Álvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena; Pérez, Belén; Desviat, Lourdes R; Richard, Eva.

Stem Cell Res ; 38: 101469, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-31132581

RESUMO

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_1231del14ins12 (p.G407â¯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.

Assuntos

Homozigoto , Células-Tronco Pluripotentes Induzidas , Metilmalonil-CoA Descarboxilase , Mutação , Acidemia Propiônica , Linhagem Celular , Humanos , Células-Tronco Pluripotentes Induzidas/enzimologia , Células-Tronco Pluripotentes Induzidas/patologia , Fator 4 Semelhante a Kruppel , Metilmalonil-CoA Descarboxilase/genética , Metilmalonil-CoA Descarboxilase/metabolismo , Acidemia Propiônica/enzimologia , Acidemia Propiônica/genética , Acidemia Propiônica/patologia

Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469].