Human Gaucher's Type 1 iPS Cells

Cellular Engineering Technologies

Catalog No: CET-CR1009-500

Product Description

Human Gaucher’s Type 1 iPSCs

Our Gaucher’s Type 1 iPSC line is derived from a 1-year-old male donor of African American descent diagnosed with Gaucher’s Type 1, the most common lysosomal storage disorder. A defective glucocerebrosidase (GCase) enzyme causes this disease by impairing the breakdown of glucocerebroside, a sphingolipid normally processed within lysosomes. As a result, glucocerebroside accumulates in tissues such as the spleen, liver, kidneys, lungs, brain, and bone marrow, leading to progressive neurological complications, hepatosplenomegaly, anemia, and bone abnormalities [i].

This iPSC line provides a valuable platform for studying Gaucher disease mechanisms, screening potential treatments, and developing gene therapy strategies. Using our patented episomal reprogramming method, we have generated a high-fidelity, non-integrating iPSC line that maintains genomic integrity while ensuring consistent, efficient reprogramming. We recommend culturing this cell line with our Human iPSC Growth Media (CET-MR1001-K).

We enhance clinical safety by excluding Myc and Lin28 transcription factors from reprogramming, as they are linked to neoplastic formation [ii]. This approach lowers the clinical risk profile of downstream differentiated cells, making this iPSC line an ideal model for Gaucher disease research, drug discovery, and regenerative medicine.

Key Features & Quality Control:

• Glucocerebrosidase-deficient 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 Gaucher’s Type 1 iPSCs:

• Disease modeling for lysosomal storage disorders
• Drug screening for glucocerebrosidase enzyme replacement and chaperone therapy
• Gene therapy development for precision medicine applications
• Differentiation into macrophages, hepatocytes, and neuronal models

Specifications:

• Cell Type: Human induced pluripotent stem cells (iPSCs)
• Donor Information: 1-year-old male, African American descent
• Reprogramming Method: Non-integrating episomal DNA
• Mutation: GBA1 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 robust, reproducible model for lysosomal storage disease research and therapeutic advancements.