Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing

Abstract

As the most common cause of heart failure, dilated cardiomyopathy (DCM) is characterized by dilated ventricles and weakened contractile force. Mutations in the calcium handling protein phospholamban (PLN) are known to cause inherited DCM. Here, we introduced a PLN-R9C mutation in a healthy control induced pluripotent stem cell (iPSC) line using CRISPR/Cas9. The genome-edited iPSC line showed typical pluripotent cell morphology, robust expression of pluripotency markers, normal karyotype, and the capacity to differentiate into all three germ layers in vitro. The PLN-R9C iPSC line provides a valuable resource to dissect the molecular mechanisms underlying PLN mutation-related DCM.