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| Título: | Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene |
Autor: | Alonso-Barroso, Esmeralda; Brasil, Sandra CSIC ORCID; 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-jul-2017 | Editor: | Elsevier | Citación: | Stem Cell Research 23: 173- 177 (2017) | Resumen: | Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430 −−?_1643+?del; p.(Gly477Glufs*9). 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. | URI: | http://hdl.handle.net/10261/166022 | DOI: | 10.1016/j.scr.2017.07.021 | Identificadores: | doi: 10.1016/j.scr.2017.07.021 issn: 1876-7753 |
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| DesviatLr_GenerationAndCharacterization.pdf | 647,44 kB | Adobe PDF |  Visualizar/Abrir |
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