Journal
STEM CELL RESEARCH
Volume 39, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2019.101503
Keywords
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Funding
- Spanish Ministerio de Economia y Competitividad
- Fondo Europeo de Desarrollo Regional (FEDER) [PI16/00573]
- Fundacion Isabel Gemio-Fundacion La Caixa [LCF/PR/PR16/11110018]
- Fundacion Ramon Areces
- Asociacion Espanola para el Estudio de Metabolopatias Congenitas (AEPMEC)
- Comunidad Autonoma de Madrid [PEJD-2017-POST/BMD-3671]
- FPU program of the Spanish Ministry of Science, Innovation and Universities [FPU15/02923]
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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.
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