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Updated: May 9, 2026
Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells
Published on: September 25, 2019
Generation of gene-corrected human isogenic iPSC lines from hypertrophic cardiomyopathy patients harboring PRKAG2
Zijun Lu1, Zhichao Qiu2, Yao Zhang3
1Institute of Neurological and Psychiatric Disorders, Shenzhen Bay Laboratory, Shenzhen, China; School of Life Science and Technology, Harbin Institute of Technology, Harbin, China.
Abstract:
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.
