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dc.contributor.authorArribas-Carreira, Laura-
dc.contributor.authorBravo-Alonso, Irene-
dc.contributor.authorLópez-Márquez, Arístides-
dc.contributor.authorAlonso-Barroso, Esmeralda-
dc.contributor.authorBriso-Montiano, Alvaro-
dc.contributor.authorArroyo, Ignacio-
dc.contributor.authorUgarte, Magdalena-
dc.contributor.authorPérez, Belén-
dc.contributor.authorPérez-Cerdá, Celia-
dc.contributor.authorRodríguez-Pombo, Pilar-
dc.contributor.authorRichard, Eva-
dc.date.accessioned2020-06-18T08:40:02Z-
dc.date.available2020-06-18T08:40:02Z-
dc.date.issued2019-07-16-
dc.identifierdoi: 10.1016/j.scr.2019.101503-
dc.identifierissn: 1876-7753-
dc.identifier.citationStem Cell Research 39 (2019)-
dc.identifier.urihttp://hdl.handle.net/10261/214714-
dc.description.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.-
dc.description.sponsorshipEconomia y Competitividad and Fondo Europeo de Desarrollo Regional (FEDER) PI16/00573, and Fundacion Isabel Gemio- Fundacion La Caixa (LCF/PR/PR16/11110018) Centro de Biología Molecular Severo Ochoa receives an institutional grant from Fundación Ramón Areces. LAC is a PhD student funded by the Asociacion Espanola para el Estudio de Metabolopatias Congenitas (AEPMEC). ALM is a postdoctoral researcher of Comunidad Autonoma de Madrid (PEJD-2017-POST/BMD-3671-
dc.languageeng-
dc.relation.isversionofPublisher's version-
dc.rightsopenAccess-
dc.titleGeneration and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene-
dc.typeartículo-
dc.identifier.doihttp://dx.doi.org/10.1016/j.scr.2019.101503-
dc.relation.publisherversionhttp://dx.doi.org/10.1016/j.scr.2019.101503-
dc.date.updated2020-06-18T08:40:02Z-
dc.rights.licensehttp://creativecommons.org/licenses/BY-NC-ND/4.0/-
dc.contributor.funderMinisterio de Economía y Competitividad (España)-
dc.contributor.funderFundación Isabel Gemio-
dc.contributor.funderLa Caixa-
dc.contributor.funderFundación Ramón Areces-
dc.contributor.funderComunidad de Madrid-
dc.relation.csic-
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003329es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/100008054es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/100012818es_ES
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