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

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

doi:10.1016/j.scr.2019.101503

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

Laura Arribas-Carreira, Irene Bravo-Alonso + Show 9 more

Open Access

https://doi.org/10.1016/j.scr.2019.101503

Copy DOI

Journal: Stem Cell Research	Publication Date: Jul 16, 2019
Citations: 3	License type: cc-by-nc-nd

Affiliation: Centro de Biología Molecular Severo Ochoa, Autonomous University of Madrid, Centro de Investigación Biomédica en Red, Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Hospital San Pedro de Alcántara

#GLDC Gene #Human Induced Pluripotent Stem Cell + Show 8 more

Abstract
Full-Text PDF
Similar Papers

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.

Full Text