The cell line was derived from an 8-year-old female with NPC1 mutation. The affected donor had evidence of splenomegaly without neurological symptoms at the time of presentation and subsequently received intravenous and intrathecal cyclodextrin.
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.