Article

Generation and characterization of human iPSC-derived <i> NPC1 <sup>I1061T/I10161T</sup> </i> i <sup>3</sup> Neurons as a model for NPC1 disease

2026-02-13

Abstract excerpt

Niemann-Pick disease, type C is an autosomal recessive, fatal, neurodegenerative disorder caused by pathological variants in NPC1 or NPC2 . Dysfunction of either NPC1 or NPC2 results in impaired intracellular cholesterol transport and subsequent storage of unesterified cholesterol in endolysosomal compartments. Earlier cell-based studies utilized patient fibroblasts to study this disease; however, neuronal cells...

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Literature Corpus work: 26e9f723-ac1c-5f30-bf64-36f55ed0a4b1
DOI: 10.64898/2026.02.11.705111

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