Cell line was derived from an 11-year-old man with NPC1 mutation. The donor was clinically affected with splenomegaly and supranuclear palsy and subsequently received intravenous and intrathecal cyclodextrin. Other subsequent features included uncoordinated movements and seizures. Prior cell-based studies to understand NPC cellular pathophysiology and screen for therapeutic agents have primarily used patient fibroblasts, which do not allow for modeling the neurodegenerative aspect of NPC disease. These cells can be used for high-throughput drug/chemical screening to identify potential therapeutic agents. These cells can also explore the pathological mechanisms contributing to neuronal degeneration. Vial contains approximately 500,000 cells. Shipped with dry ice.
