Key result
Researchers successfully generate a novel hiPSC line from a patient with DSG2-mutated arrhythmogenic cardiomyopathy.
The generation of this patient-specific hiPSC line provides a validated in vitro model for studying the mechanisms of DSG2-related arrhythmogenic cardiomyopathy and evaluating potential therapies.
May enable in vitro testing of DSG2-related arrhythmogenic cardiomyopathy therapies; leaves open clinical translation pending further validation.
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.
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Chua et al. (2026) studied Arrhythmogenic cardiomyopathy (n=1). Generation of hiPSC line JHUi010-A was evaluated on Cell line characteristics and cardiomyocyte differentiation. A human induced pluripotent stem cell line, JHUi010-A, was successfully generated from a 48-year-old female with arrhythmogenic cardiomyopathy carrying a pathogenic DSG2 c.2358delA variant.
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