Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a male patient that has a homozygous p.I1061T missense mutation in NPC1 using a non-integrating Sendai virus technique. This NPC1 iPSC line offers a useful resource for disease modeling and drug development.

Niemann-Pick 病，C 型 (NPC) 是一种罕见的常染色体隐性遗传病，由 NPC1 或 NPC2 突变引起，NPC1或NPC2编码溶酶体中的细胞内胆固醇结合蛋白。NPC1或 NPC2 蛋白的缺乏导致细胞内胆固醇运输功能障碍和未酯化胆固醇的溶酶体积累。使用非整合仙台病毒技术，从一名男性患者的皮肤成纤维细胞中产生人诱导多能干细胞 (iPSC) 系，该患者在NPC1中具有纯合 p.I1061T 错义突变。该NPC1 iPSC 系列为疾病建模和药物开发提供了有用的资源。