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

A human induced pluripotent stem cell line from an arrhythmogenic cardiomyopathy patient with DSG2 c.2358delA variant was successfully generated and characterized.

• Why it matters: This work addresses the need for patient-specific models to study DSG2-related arrhythmogenic cardiomyopathy mechanisms and develop targeted therapies.
• What they did: Researchers used Sendai virus vectors to reprogram cells from a 48-year-old female patient into a clonal hiPSC line, JHUi010-A, which exhibits normal karyotype, stemness markers, and trilineage differentiation capacity.
• The result: Cardiomyocytes derived from this line show reduced DSG2 localization, confirming its utility for studying disease mechanisms and testing therapeutic strategies in vitro.