Generation of gene-corrected human isogenic iPSC lines from hypertrophic cardiomyopathy patients harboring PRKAG2 mutation (c.2084A>G, p.His530Arg) using prime editing

PRKAG2 cardiac syndrome is a rare inherited cardiomyopathy characterized by clinical manifestations such as abnormal cardiac hypertrophy, glycogen storage, and arrhythmias. We derived two human induced pluripotent stem cell (iPSC) lines carrying a heterozygous PRKAG2 missense mutation (c.2084A>G, p.His530Arg) from two patients with hypertrophic cardiomyopathy. Using Prime Editing, we precisely corrected this mutation in patient-specific iPSCs. This approach enables a valuable resource for advancing precision medicine research in PRKAG2 cardiac syndrome.