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

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

doi:10.1016/j.scr.2019.101469

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

Arístides López-Márquez, Esmeralda Alonso-Barroso + Show 10 more

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https://doi.org/10.1016/j.scr.2019.101469

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Journal: Stem Cell Research	Publication Date: May 22, 2019
Citations: 4	License type: cc-by-nc-nd

Affiliation: Centro de Investigación Biomédica en Red, Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Centro de Biología Molecular Severo Ochoa, Autonomous University of Madrid

#iPSC Line #PCCB Gene + Show 8 more

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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_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.

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