Generation of human induced pluripotent stem cell (iPSC) lines derived from five patients carrying the pathogenic phospholamban-R14del (PLN-R14del) variant and three non-carrier family members

Abstract

The R14del pathogenic variant in the phospholamban (PLN) gene (PLN-R14del), has been identified in families with hereditary cardiomyopathy, including dilated and arrhythmogenic cardiomyopathies. Here we have generated human iPSC lines from five PLN-R14del carriers and three non-carrier family members. Peripheral blood mononuclear cells (PBMC) were obtained from the eight individuals and reprogrammed using Sendai viral vector system carrying the Yamanaka factors. All eight lines show typical iPSC morphology, normal karyotype, high expression of pluripotency markers, and possess the ability to differentiate into all three germ layers. These lines represent valuable resources for studying the pathophysiological mechanisms of PLN-R14del associated cardiomyopathy.