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Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

AuthorsArribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Alvaro; Arroyo, Ignacio; Ugarte, Magdalena CSIC ORCID; Pérez, Belén; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva CSIC ORCID
Issue Date16-Jul-2019
CitationStem Cell Research 39 (2019)
AbstractA 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.
Publisher version (URL)http://dx.doi.org/10.1016/j.scr.2019.101503
Identifiersdoi: 10.1016/j.scr.2019.101503
issn: 1876-7753
Appears in Collections:(CBM) Artículos
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