Human Niemann Pick Type C (Female) iPS Cells

Cellular Engineering Technologies

SKU: CET-CR1013-500

Human Niemann Pick Type C (Female) iPSCs

Our Niemann-Pick Disease Type C (NPC1) iPSC line is derived from an 8-year-old female donor of Caucasian descent diagnosed with NPC1, a rare neurovisceral lipid storage disorder [i]. Niemann-Pick Type C results from autosomal recessive mutations in the NPC1 or NPC2 gene, which cause abnormal endosomal-lysosomal lipid trafficking. This leads to the accumulation of un-esterified cholesterol and other lipids in lysosomes, resulting in progressive neurodegeneration, hepatosplenomegaly, and early mortality [ii].

This NPC1 iPSC line provides an ideal platform for studying cholesterol homeostasis, drug screening, and therapeutic development. Using our patented episomal reprogramming method, we generate high-fidelity, non-integrating iPSCs that maintain genomic integrity while ensuring consistent, efficient reprogramming. We recommend culturing of these cells in Human iPSC Growth Media (CET-MR1001-K).

To enhance clinical safety, we exclude Myc and Lin28 transcription factors, which are linked to neoplastic formation. This approach lowers the clinical risk profile of downstream differentiated cells, making this iPSC line a powerful tool for Niemann-Pick disease research, gene therapy, and regenerative medicine applications.

Key Features & Quality Control:

• NPC1-mutant iPSC line validated for pluripotency
• Non-integrating episomal reprogramming for genomic stability
• Mycoplasma-free and pathogen-free certification
• Cryopreserved at low passage to ensure high post-thaw viability

Applications of Niemann Pick Type C iPSCs:

• Disease modeling for lysosomal storage disorders
• Cholesterol metabolism research in neurodegenerative disease
• Drug screening and therapeutic development for NPC1-targeted treatments
• Gene therapy development for precision medicine applications
• Differentiation into neuronal, hepatic, and macrophage models

Specifications:

• Cell Type: Human induced pluripotent stem cells (hiPSCs)
• Donor Information: 8-year-old female, Caucasian descent
• Mutation: NPC1 gene mutation (variant details available upon request)
• Culture Conditions: Feeder-free, compatible with standard iPSC growth media
• Storage & Shipping: Cryopreserved, shipped on dry ice

Each vial contains ~500,000 cryopreserved cells, providing a reliable and reproducible model for Niemann-Pick disease research and therapeutic advancements.