Stem Cell Research (Jul 2019)

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

  • Arístides López-Márquez,
  • Esmeralda Alonso-Barroso,
  • Gema Cerro-Tello,
  • Irene Bravo-Alonso,
  • Laura Arribas-Carreira,
  • Álvaro Briso-Montiano,
  • Rosa Navarrete,
  • Celia Pérez-Cerdá,
  • Magdalena Ugarte,
  • Belén Pérez,
  • Lourdes R. Desviat,
  • Eva Richard

Journal volume & issue
Vol. 38

Abstract

Read online

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB 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. The generated iPSC line represents a useful tool to study the pathomechanisms underlying the deficiency.