Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene leading to a massive cholesterol accumulation. Here, we describe the generation of induced pluripotent stem cells (iPSCs) of an affected female adult individual carrying the NPC1 mutation p.Val1023Serfs*15/p.Gly992Arg and an iPSC line from an unrelated healthy female adult control individual. Human iPSCs were derived from fibroblasts using retroviruses carrying the four reprogramming factors OCT4, SOX2, KLF4 and C-MYC. These lines provide a valuable resource for studying the pathophysiology of NPC and for pharmacological intervention.

C 型尼曼匹克病 (NPC) 是一种罕见的进行性神经退行性疾病，发病率为 1:120,000，由 NPC1 或NPC2基因突变导致大量胆固醇积累引起。在这里，我们描述了携带NPC1突变 p.Val1023Serfs*15/p.Gly992Arg 的受影响女性成年个体和来自不相关的健康女性成年对照个体的 iPSC 系的诱导多能干细胞 (iPSC) 的生成。人类 iPSC 使用携带四种重编程因子OCT4、SOX2、KLF4和C-MYC的逆转录病毒从成纤维细胞衍生而来。这些线为研究 NPC 的病理生理学和药物干预提供了宝贵的资源。