Generation of an induced pluripotent stem cell line, JHUi010-A, from an arrhythmogenic cardiomyopathy patient harboring pathogenic DSG2 variant c.2358delA.

Abstract

We generated a human induced pluripotent stem cell (hiPSC) clonal line, JHUi010-A, from a 48-year-old female diagnosed with arrhythmogenic cardiomyopathy (ACM) carrying a heterozygous DSG2 c.2358delA variant using Sendai virus vectors expressing the Yamanaka factors. The line exhibits a normal karyotype, expresses stemness markers, and demonstrates trilineage differentiation capacity. Mycoplasma testing and short tandem repeat (STR) authentication confirmed line quality. Cardiomyocytes derived from JHUi010-A show reduced DSG2 localization, confirming the utility of this patient-specific model to study DSG2-related ACM mechanisms and to evaluate therapeutic strategies in vitro. This line has been submitted for Human Pluripotent Stem Cell registry (hPSCreg) certification.