| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8425453 | Stem Cell Research | 2018 | 5 Pages |
Abstract
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.287TâC (p.Ile96Thr) and a splicing loss-of-function variant c.584GâA 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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Authors
E. Richard, S. Brasil, A. Briso-Montiano, E. Alonso-Barroso, M.E. Gallardo, B. Merinero, M. Ugarte, L.R. Desviat, B. Pérez,