Stem cell researchOct 11, 2026

Creating a human stem cell line with a specific PKP2 gene mutation using precise DNA editing

CRISPR Gene Editing Weekly Brief ↗PubMed ↗DOI ↗

Updated Oct 12, 2026

Abstract

The PKP2 gene mutation c.1171-2 A>G has been successfully introduced into a human embryonic stem cell line.

Mutations in the PKP2 gene are strongly linked to arrhythmogenic right ventricular cardiomyopathy (ARVC).
The engineered H9 human embryonic stem cell line, WAe009-A-3W, retains normal stem cell characteristics and a typical karyotype.
The new cell line demonstrates potential for trilineage differentiation.
WAe009-A-3W is a promising in vitro model for studying the disease mechanisms associated with PKP2-related ARVC.

Simplified

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.

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Creating a human stem cell line with a specific PKP2 gene mutation using precise DNA editing

Abstract

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