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.

我们已经生成了 UQACi001-A，这是一种新的诱导多能干细胞 (iPSC) 系，该细胞系来源于一名患有广泛性严重大疱性单纯性表皮松解症 (EBS-gen sev) 并携带角蛋白 14 (K14) R125S 突变的男性患者的皮肤成纤维细胞。使用非整合仙台病毒载体对成纤维细胞进行重编程。iPSC 系显示出正常的分子核型，表达多能性标记，能够分化成三个胚胎胚层，并且在遗传上与原始亲本成纤维细胞相同。已建立的 iPSC 模型为研究罕见的单纯性大疱性表皮松解病和开发新疗法如 CRISPR/Cas9 技术进行 DNA 编辑提供了宝贵的资源。