Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative

Abstract

Phospholamban (PLN) cardiomyopathy, caused by the deletion of arginine 14 in PLN (PLN-R14del), is associated with both dilated and arrhythmogenic cardiomyopathy, often manifesting early in life. Interestingly, some carriers remain asymptomatic with a normal life span. The mechanisms underlying disease progression remain unclear. We generated human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of two asymptomatic Greek PLN-R14del carriers and one non-carrier relative. These iPSC lines exhibit typical morphology and markers of undifferentiated hPSC state, providing an in vitro platform to investigate disease mechanisms and gain insights into the patient-specific onset and progression of PLN-R14del cardiomyopathy.