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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

Author
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; Ruiz Desviat, Lourdesuntranslated; Richard Rodríguez, Eva Maríauntranslated
Entity
UAM. Departamento de Biología Molecular
Publisher
Elsevier BV
Date
2019-07-01
Citation
Steam Cell Research 2019.38 (2019): 101469
ISSN
1876-7753 (online); 1873-5061 (print)
DOI
10.1016/j.scr.2019.101469
Funded by
Research reported in this work was funded by Grant PAF107 from the Propionic Acidemia Foundation and by grant SAF2016-76004-R from Spanish Ministry of Economy and Competitiveness and European Regional Development Fund. The authors thank INDEPF (Instituto de investigación y desarrollo social de enfermedades poco frecuentes), the Cytogenetic unit from Centro Nacional de Investigaciones Oncológicas(CNIO) and Mar Álvarez for their excellent technical assistance. Centro de Biología Molecular Severo Ochoa receives an institutional grant from Fundación Ramón Areces. ALM is a postdoctoral researcher of Comunidad Autónoma de Madrid (PEJD-2017-POST/BMD-3671). EABis a PhD student funded by the FPU program of the Spanish Ministry ofScience, Innovation and Universities (FPU15/02923)
Project
Gobierno de España. SAF2016-76004-R; Comunidad de Madrid. PEJD-2017-POST/BMD-3671; Gobierno de España. FPU15/02923
Editor's Version
https://doi.org/10.1016/j.scr.2019.101469
Subjects
Propionic acidemia; Omozygous mutation; PCCBgene; Induced pluripotent stem cell (iPSC); Biología y Biomedicina / Biología
URI
http://hdl.handle.net/10486/690741
Rights
© 2019 The Authors

Licencia de Creative Commons
Esta obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.

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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Google™ Scholar: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 - Ruiz Desviat, Lourdes - Richard Rodríguez, Eva María

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