Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
Entidad
UAM. Departamento de Biología MolecularEditor
Elsevier BVFecha de edición
2019-07-01Cita
10.1016/j.scr.2019.101469
Steam Cell Research 2019.38 (2019): 101469
ISSN
1876-7753 (online); 1873-5061 (print)DOI
10.1016/j.scr.2019.101469Financiado por
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)Proyecto
Gobierno de España. SAF2016-76004-R; Comunidad de Madrid. PEJD-2017-POST/BMD-3671; Gobierno de España. FPU15/02923Versión del editor
https://doi.org/10.1016/j.scr.2019.101469Materias
Propionic acidemia; Omozygous mutation; PCCBgene; Induced pluripotent stem cell (iPSC); Biología y Biomedicina / BiologíaDerechos
© 2019 The AuthorsEsta obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.
Resumen
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
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Alonso-Barroso, Esmeralda
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Cerro-Tello, Gema
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Bravo-Alonso, Irene
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Arribas-Carreira, Laura
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Briso-Montiano, Álvaro
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Navarrete, Rosa
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Pérez-Cerdá, Celia
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Ugarte, Magdalena
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Pérez, Belén
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Ruiz Desviat, Lourdes
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Richard Rodríguez, Eva María
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