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

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

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.Se...

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Bibliographic Details
Main Authors: E. Richard, S. Brasil, A. Briso-Montiano, E. Alonso-Barroso, M.E. Gallardo, B. Merinero, M. Ugarte, L.R. Desviat, B. Pérez
Format: Article
Language:English
Published: Elsevier 2018-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506118300990

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