Generation of induced pluripotent stem cell PLAFMCi002-A derived from peripheral blood mononuclear cells of polycystic kidney disease patient with PKD1 mutation

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease, which characterized by formation and expansion of cysts within the kidney, leading to kidney failure. Thus, Peripheral blood mononuclear cells (PBMCs) were isolated from a 32-year-old male patient carrying the PKD1 compound mutations p.M3091R and p.S843P, and were reprogrammed to human induced pluripotent stem cells (iPSCs) using non-integrative episomal vectors. The PLAFMCi002-A iPSC line expresses pluripotency markers, exhibits the capacity to differentiate into three germ layers in vivo. This iPSC line may be used for studying the molecular basis of the disease, screening potential therapeutic targets and drug testing.