Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C.

ABSTRACT: Recent studies on developing three-dimensional (3D) brain organoids from stem cells have allowed the generation of in vitro models of neural disease and have enabled the screening of drugs because these organoids mimic the complexity of neural tissue. Niemann-Pick disease, type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in the NPC1 or NPC2. The pathological features underlying NPC are characterized by the abnormal accumulation of cholesterol in acidic compartments, including late endosomes and lysosomes. Due to the inaccessibility of brain tissues from human NPC patients, we developed NPC brain organoids with induced neural stem cells from NPC patient-derived fibroblasts. NPC organoids exhibit significantly reduced size and proliferative ability, which ar

SUBMITTER: Lee SE 

PROVIDER: S-EPMC7733597 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature