Abstract
We have generated UQACi001-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S mutation. Fibroblasts were reprogrammed using non-integrating Sendai virus vectors. The iPSC line displayed normal molecular karyotype, expressed pluripotency markers, is capable of differentiating into three embryonic germ layers and is genetically identical to the originating parental fibroblasts. The established iPSC model provides a valuable resource for studying the rare disease of epidermolysis bullosa simplex and developing new therapies as DNA editing by CRISPR/Cas9 technology.
Highlights
We have generated UQACi001-A, a new induced pluripotent stem cell line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S mutation
Resource utility The induced pluripotent stem cell (iPSC) line was established from an Epidermolysis bullosa simplex (EBS) patient with the severe missense mutation p.R125S, not reported elsewhere (Bchetnia et al, 2012)
Epidermolysis bullosa simplex (EBS) is a rare skin disease characterized by skin fragility and blistering upon minor mechanical trauma
Summary
The iPSCs line was established from an EBS patient with the severe missense mutation p.R125S, not reported elsewhere (Bchetnia et al, 2012). This line might provide a cellular model to investigate the biological pathways altered by this mutation as well as to construct in vitro 3D skin models useful for novel personalized therapies
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