Wilson's disease

DefiniGEN human iPSC-derived Wilson’s disease modelled hepatocytes.

Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism with a worldwide prevalence of 1/30,000 to 1/100,000. It is caused by loss-of-function mutations in the ATP7B gene, which encodes copper-transporting P-type ATPase, expressed primarily in the liver. ATP7B mutations result in defective copper homeostasis and excessive copper accumulation predominantly in the liver and brain, leading to a series of metabolic disorders in the liver and nervous system.