Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy

Abstract

Our study revealed the human cardiac pathogenesis in patient-specific induced pluripotent stem cell-derived cardiomyocytes from NS patients carrying biallelic variants in <i>LZTR1</i> and identified a unique disease-specific proteome signature. In addition, we identified the intronic CRISPR repair as a personalized and in our view clinically translatable therapeutic strategy to treat NS-associated hypertrophic cardiomyopathy.