Alpha-1 Anti-Trypsin Deficiency (A1ATD) iPSC Cell Line
Our Alpha-1 Anti-Trypsin Deficiency (A1ATD) iPSC Cell Line is a powerful model for studying alpha-1 anti-trypsin deficiency, a genetic disorder caused by mutations in the SERPINA1 gene. This mutation leads to misfolded alpha-1 anti-trypsin (A1AT) protein, which can result in lung and liver diseases, including chronic obstructive pulmonary disease (COPD) and cirrhosis [i]. A1AT, a glycoprotein primarily produced by hepatocytes, plays a crucial role in protecting lung tissue by inhibiting neutrophil elastase, preventing excessive inflammation and tissue damage [ii].
This iPSC line was derived from a 57-year-old homozygous female donor carrying two copies of the mutated SERPINA1 gene, producing an abnormal form of the A1AT protein. Moreover, reprogramming was performed using our patented episomal, non-integrating method, which ensures the highest level of safety by minimizing the risk of insertional mutagenesis. This approach delivers a consistent, efficient, and flexible platform for disease modeling, drug screening, and regenerative medicine research. We recommend culturing these cells in Human iPSC Growth Media (CET-MR1001-K)
We exclude the oncogenic transcription factors Myc and Lin28 from our reprogramming process to prevent their association with neoplastic formation.
Key Features & Benefits:
- Patient-derived iPSC model for studying A1AT deficiency, lung disease, and liver pathology.
- Mutant SERPINA1 gene background—ideal for disease modeling and therapeutic development.
- Episomal, non-integrating reprogramming method ensures safe and stable iPSC generation.
- No Myc or Lin28 transcription factors to minimize oncogenic risks.
- Suitable for applications in drug screening, gene therapy research, and personalized medicine.
Specifications:
- Source: 57-year-old female donor with homozygous SERPINA1 mutation.
- Pluripotency validated through colony morphology, alkaline phosphatase staining, and SSEA-4 expression.
- Quality controlled: Free of Mycoplasma and exhibits robust iPSC colony growth characteristics.
- Quantity: Vial contains approximately 500,000 cells.
- Shipping: Shipped on dry ice for optimal preservation.
This iPSC line serves as an invaluable tool for understanding A1AT deficiency, testing novel therapeutics, and advancing precision medicine approaches.