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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

Author
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, Pilaruntranslated; Richard Rodríguez, Eva Maríauntranslated
Entity
UAM. Departamento de Biología Molecular
Publisher
Elsevier BV
Date
2019-08-01
Citation
Stem Cell Research 2019.39 (2019): 101503
ISSN
1873-5061 (print); 1876-7753 (online)
DOI
10.1016/j.scr.2019.101503
Funded by
Research reported in this work was funded by Grants of Spanish Ministerio de Economía y Competitividad and Fondo Europeo de Desarrollo Regional (FEDER) PI16/00573, and Fundación Isabel Gemio- Fundación La Caixa (LCF/PR/PR16/11110018). The authors thank the Cytogenetic unit from Centro Nacional de Investigaciones Oncológicas (CNIO) for its excellent technical assistance. Centro de Biología Molecular Severo Ochoa receives an institutional grant from Fundación Ramón Areces. LAC is a PhD student funded by the Asociación Española para el Estudio de Metabolopatías Congénitas (AEPMEC). ALM is a postdoctoral researcher of Comunidad Autónoma de Madrid (PEJD-2017-POST/BMD-3671). EAB is a PhD student funded by the FPU program of the Spanish Ministry of Science, Innovation and Universities (FPU15/02923)
Project
Gobierno de España. PI16/00573; Comunidad de Madrid. PEJD-2017-POST/BMD-3671; Gobierno de España. FPU15/02923
Editor's Version
https://doi.org/10.1016/j.scr.2019.101503
Subjects
Induced pluripotent stem cell (iPSC); Fibroblasts; Nonketotic hyperglycinemia; GLDC gene; Biología y Biomedicina / Biología
URI
http://hdl.handle.net/10486/690963
Rights
© 2019 The Author(s)

Licencia Creative Commons
Esta obra está bajo una Licencia Creative Commons Atribución 4.0 Internacional.

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
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Google™ Scholar: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 Rodríguez, Eva María

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