Human Cystinosis iPS Cells

Cellular Engineering Technologies

Catalog No: CET-CR1011-500

Product Description

Cystinosis iPSCs

Our Cystinosis iPSCs are derived from a 14-year-old male donor of Caucasian descent diagnosed with nephropathic cystinosis, a rare autosomal recessive lysosomal storage disorder. This condition results in the abnormal accumulation of cystine within lysosomes [i], leading to intracellular crystal formation and progressive organ dysfunction. Nephropathic cystinosis is the leading cause of Fanconi syndrome in children, a disorder that disrupts renal tubule function, causing excessive loss of essential nutrients such as carbohydrates, amino acids, potassium, and phosphates in the urine.

The underlying cause of this disorder is mutations in the CTNS gene (chromosome 17p13), which encodes cystinosin [ii], a critical transporter responsible for cystine efflux from lysosomes. This iPSC line provides an essential tool for studying cystinosis-related pathophysiology, drug screening, and potential gene therapy approaches.

Using our patented episomal reprogramming method, we have converted primary fibroblast cells into pluripotent stem cells. Our proprietary transcription factor mix and small molecule chemistry offer a safe, consistent, and efficient reprogramming system, minimizing insertional mutagenesis risks while maintaining high fidelity for disease modeling and regenerative applications. We recommend culturing these iPSCs with our Human iPSC Growth Media (CET-MR1001-K).

To enhance clinical safety, we exclude Myc and Lin28 transcription factors, which are associated with neoplastic transformation [iii]. This ensures a lower clinical risk profile for downstream differentiation into renal, metabolic, and lysosomal disease models for cystinosis research, drug screening, and therapeutic development.

Key Features & Quality Control:

• CTNS-mutant iPSC line validated for pluripotency
• Non-integrating, virus-free episomal reprogramming for genomic stability
• Confirmed mycoplasma-free and pathogen-free
• Cryopreserved at low passage for high viability upon thawing

Applications:

• Disease modeling for nephropathic cystinosis and lysosomal storage disorders
• Drug discovery for cystine-depleting therapies and CTNS-targeted interventions
• Gene therapy development for personalized medicine
• Differentiation into renal tubule cells, metabolic cells, and other relevant tissues

Specifications:

• Cell Type: Human induced pluripotent stem cells (hiPSCs)
• Donor Information: 14-year-old male, Caucasian descent
• Reprogramming Method: Non-integrating episomal DNA
• Mutation: CTNS gene mutation (variant details available upon request)
• Storage & Shipping: Cryopreserved, shipped on dry ice

Each vial contains ~500,000 cryopreserved cells, ensuring high viability and reproducibility for disease research and therapeutic development.