Why the study?
The clinical significance of approximately 40% of genetic variants in inherited cardiovascular diseases is uncertain, requiring new tools such as CRISPR/Cas9-edited iPSCs to clarify pathogenicity.
Population
iPSCs generated from a carrier of the MYH7 p.Met659Ile (c.1977G>A) variant
Comparison
Correction of the single nucleotide substitution with CRISPR/Cas9
Design
In vitro stem cell gene editing and characterization study
Key result
CRISPR/Cas9 correction of the p.Met659Ile variant in MYH7 in patient-specific iPSCs successfully generated two isogenic iPSC lines that maintained pluripotency and a normal karyotype.
Authors
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Enables mechanistic studies of MYH7-related hypertrophic cardiomyopathy in human cardiomyocytes; leaves open any clinical translation.
The generation of isogenic iPSC lines with a corrected MYH7 variant provides a valuable tool for studying the pathogenetic mechanisms of hypertrophic cardiomyopathy.
Shulgina et al. (2025) studied Hypertrophic cardiomyopathy (n=1). CRISPR/Cas9 correction of MYH7 p.Met659Ile variant vs. Uncorrected patient-specific iPSC line was evaluated on Generation of corrected iPSC lines. CRISPR/Cas9 correction of the p.Met659Ile variant in MYH7 in patient-specific iPSCs successfully generated two isogenic iPSC lines that maintained pluripotency and a normal karyotype.
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