Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
2018
E. Richard | S. Brasil | A. Briso-Montiano | E. Alonso-Barroso | M.E. Gallardo | B. Merinero | M. Ugarte | L.R. Desviat | B. Pérez
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.
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