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| Título: | Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene |
Autor: | Arribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Álvaro CSIC ORCID; Arroyo, Ignacio; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva CSIC ORCID | Fecha de publicación: | 16-jul-2019 | Citación: | Stem Cell Research 39 (2019) | Resumen: | A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC 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. This cellular model provides a good resource for disease modeling and drug discovery. | Versión del editor: | http://dx.doi.org/10.1016/j.scr.2019.101503 | URI: | http://hdl.handle.net/10261/214714 | DOI: | 10.1016/j.scr.2019.101503 | Identificadores: | doi: 10.1016/j.scr.2019.101503 issn: 1876-7753 |
| Aparece en las colecciones: | (CBM) Artículos |
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| PérezB_GenerationandCharacterizationofaHuman.pdf | 1,19 MB | Adobe PDF |  Visualizar/Abrir |
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