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Cyst Epithelial-derived iPSCs from ADPKD Patients

Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disease, leads to kidney failure in most patients. While mutations in the Polycystin 1 (PKD1) gene cause 85% of cases, we do not fully understand how dysregulation of PKD1 leads to cyst formation on a molecular level. Now, a new STEM CELLS Translational Medicine study from Joost H. Gribnau (Erasmus Medical Center Rotterdam, Netherlands) reports on the generation of induced pluripotent stem cells (iPSCs) from ADPKD patients to study the function of PKD1 in kidney development and cyst formation in vitro. Kenter et al. report that the iPSCs display the germline and autosomal mutations implicated in ADPKD and an epigenetic memory of kidney epithelial cells and therefore represent a powerful model to study ADPKD in vitro.