Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease.

Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the hepatobiliary ductal plate. We isolated peripheral blood mononuclear cells from a 21-year-old adult female patient carrying a homozygous p.L2665P mutation in the PKHD1 gene and used nonintegrated exogenous in vitro differentiation vectors for reprogramming to obtain human induced pluripotent stem cells. The induced pluripotent stem cells thus established had a normal karyotype, expressed markers of pluripotency, and could differentiate into three germ layers in the body.