Generation of a PKP2 (c.1171-2 A > G) mutant human embryonic stem cell line using adenine base editing.

The PKP2 (12p11.21) gene encodes plakophilin-2, a key component of cardiac desmosomes, and its mutations are strongly associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). In this study, we utilized an adenine base editor (ABE) to introduce the PKP2 c.1171-2 A > G mutation into the H9 human embryonic stem cell line. The resulting cell line, named WAe009-A-3W, maintains typical stem cell morphology, pluripotency, a normal 46,XX karyotype, and trilineage differentiation potential. Its STR profile matches that of the parental H9 line. This cell line serves as a valuable in vitro model for investigating the pathogenic mechanism of PKP2-associated ARVC.