1.
Stem Cell Res
; 29: 143-147, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29660608
RESUMO
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.