Stem Cell Research (Aug 2019)

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

Journal volume & issue
Vol. 39

Abstract

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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.