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| Título: | Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene |
Autor: | López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCID | Fecha de publicación: | 22-may-2019 | Citación: | Stem Cell Research 38 (2019) | 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. | Versión del editor: | http://dx.doi.org/10.1016/j.scr.2019.101469 | URI: | http://hdl.handle.net/10261/214711 | DOI: | 10.1016/j.scr.2019.101469 | Identificadores: | doi: 10.1016/j.scr.2019.101469 issn: 1876-7753 |
| Aparece en las colecciones: | (CBM) Artículos |
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| Fichero | Descripción | Tamaño | Formato | |
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| DesviatLR_GenerationAndCharacterization.pdf | 1,22 MB | Adobe PDF |  Visualizar/Abrir |
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