Stem Cell Research (2018-05-01)

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type

  • E. Richard,
  • S. Brasil,
  • A. Briso-Montiano,
  • E. Alonso-Barroso,
  • M.E. Gallardo,
  • B. Merinero,
  • M. Ugarte,
  • L.R. Desviat,
  • B. Pérez

Journal volume & issue
Vol. 29
pp. 143 – 147


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Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). 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.