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从一名因GLDC基因突变导致非酮症高甘氨酸血症的患者中生成并鉴定人诱导多能干细胞系（UAMi005-A）。

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

作者信息

Arribas-Carreira Laura, Bravo-Alonso Irene, López-Márquez Arístides, Alonso-Barroso Esmeralda, Briso-Montiano Álvaro, Arroyo Ignacio, Ugarte Magdalena, Pérez Belén, Pérez-Cerdá Celia, Rodríguez-Pombo Pilar, Richard Eva

机构信息

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain.

出版信息

Stem Cell Res. 2019 Aug;39:101503. doi: 10.1016/j.scr.2019.101503. Epub 2019 Jul 16.

DOI:10.1016/j.scr.2019.101503
PMID:31349202
Abstract

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.

摘要

从一名患有非酮症高甘氨酸血症患者的成纤维细胞中生成了一株人诱导多能干细胞（iPSC）系，该患者的GLDC基因存在双等位基因变化c.1742C > G（p.Pro581Arg）和c.2368C > T（p.Arg790Trp）。使用基于仙台病毒的非整合方法递送重编程因子OCT3/4、SOX2、KLF4和c-MYC。一旦建立，iPSC已显示出完全的多能性、分化能力和遗传稳定性。这种细胞模型为疾病建模和药物发现提供了良好的资源。

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