Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). The generated iPSCs shared similar karyotype with the parental dermal fibroblast cells, expressed pluripotency stem cell markers, and demonstrated differentiation potential into the three germ layers. This cell line can be used as an ideal model to facilitate the understanding of the pathogenic disease mechanisms underlying the congenital myasthenic syndrome and for developing novel therapeutic strategies.

诱导的多能干细胞（iPSC）由皮肤成纤维细胞产生，皮肤成纤维细胞得自24岁的女性，该女性被诊断为遗传性先天性肌无力综合症（CMS），由p.Arg331Trp（c.991C> T）纯合基因突变引起乙酰胆碱受体（CHRNE）的ε亚基。生成的iPSC与亲本真皮成纤维细胞共享相似的核型，表达多能干细胞标记，并显示出分化为三个胚层的潜力。该细胞系可以用作理想模型，以促进对先天性肌无力综合症基础的致病性疾病机制的理解并开发新的治疗策略。