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

Adenine base editing successfully generated a PKP2 c.1171-2 A>G mutant human embryonic stem cell line, WAe009-A-3W, with preserved pluripotency and normal karyotype.

• Why it matters: Mutations in PKP2 are strongly linked to arrhythmogenic right ventricular cardiomyopathy (ARVC), but understanding their pathogenic mechanisms requires accurate cellular models.
• What they did: Researchers used an adenine base editor to introduce the PKP2 mutation into the H9 human embryonic stem cell line, then confirmed the cell line maintained typical stem cell features and genetic stability.
• The result: The resulting cell line provides a valuable in vitro model for studying the pathogenic mechanisms of PKP2-associated ARVC, facilitating future research into disease processes.