Stem Cell Research (Aug 2017)

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

  • Esmeralda Alonso-Barroso,
  • Sandra Brasil,
  • Álvaro Briso-Montiano,
  • Rosa Navarrete,
  • Celia Pérez-Cerdá,
  • Magdalena Ugarte,
  • Belén Pérez,
  • Lourdes R. Desviat,
  • Eva Richard

DOI
https://doi.org/10.1016/j.scr.2017.07.021
Journal volume & issue
Vol. 23, no. C
pp. 173 – 177

Abstract

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Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430−−?_1643+?del; p.(Gly477Glufs*9). 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.