Non-alcoholic fatty liver disease (NAFLD) is characterized by the accumulation of fat within the liver that can lead to inflammation, fibrosis, and hepatocellular carcinoma. The most common disease implicated genetic variant is I148M in the gene coding for Patatin-like phospholipase domain-containing protein 3 (PNPLA3). DefiniGEN disease modelled NAFLD hepatocytes represent an optimized model for drug discovery applications and a principal tool for elucidating the underlying mechanisms of the disease.
- Disease circuit verified three product variants available: Def-HEP PNPLA3-I148M, Def-HEP PNPLA3 KO1, Def-HEP PNPLA3 KO2 plus WT isogenic control
- Display multiple key hepatocyte markers A1AT, ALB, HNF4a, and TTR
- Phenotypic analysis verified fatty acid accumulation
- Genetic manipulation does not negatively affect differentiation capacity into hepatocytes
- Mutations in PNPLA3 have been demonstrated to interfere with lipid metabolism and induce a steatotic-like phenotype