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Title

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

AuthorsLópez-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC; Pérez, Belén; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC
Issue Date22-May-2019
CitationStem Cell Research 38 (2019)
AbstractA 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.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.
Publisher version (URL)http://dx.doi.org/10.1016/j.scr.2019.101469
URIhttp://hdl.handle.net/10261/214711
DOIhttp://dx.doi.org/10.1016/j.scr.2019.101469
Identifiersdoi: 10.1016/j.scr.2019.101469
issn: 1876-7753
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