Hepatocyte A1ATD

DefiniGEN provide disease modelled alpha-1 antitrypsin deficiency hepatocytes which are highly functional patient-derived human hepatocytes. The cells are generated using the dermal fibroblasts from an alpha-1 antitrypsin (A1AT) disorder patient carrying the ‘Z’ (E342K) point mutation in the A1AT gene SERPINA1. This mutation leads to the formation of mutant A1AT polymers that ultimately cause liver and lung damage. DefiniGEN’s A1AT patient derived hepatocytes represent an optimized disease model for drug discovery applications and are an effective tool for elucidating the underlying mechanisms of the disease.

Figure 1. For production of DefiniGEN’s A1ATD cells, A1AT patient fibroblasts are first reprogrammed into iPSC using Nobel prize winning technology developed by Yamanaka and colleagues. These iPSC are then differentiated into liver hepatocytes using the OptiDIFF protocol developed at the University of Cambridge-Laboratory for Regenerative Medicine.

• Highly standardized cell product containing >98% human hepatocyte cells with consistent performance and biologically relevant data
• Disease circuit verified ZZ E342K mutation in the SERPINA1 gene