• A PKD1 variant increases risk of autosomal dominant polycystic kidney disease (ADPKD) • IPSCs with this variant were generated from patient blood cells. • These iPSCs express the PKD1 variant and stemness markers. • The iPSCs can differentiate into three germ layers in vitro. • These iPSCs can help understand ADPKD pathophysiology and design treatment. PKD1 variants are risk factors for autosomal dominant polycystic kidney disease (ADPKD). However, the detailed mechanisms by which PKD1 variants cause ADPKD remain unclear. Currently, there are no curative treatments for ADPKD. We generated induced pluripotent stem cells (iPSCs) from a patient with ADPKD and a PKD1 variant. These iPSCs expressed stem cell markers and could differentiate into the three germ layers in vitro . The iPSCs will serve as useful tools for understanding the pathophysiology of ADPKD and for screening therapeutic approaches.
Tanaka et al. (Sun,) studied this question.