Article
Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.
Stem cell research - 1 Aug 2021
Warnecke Nele, Ulmer Bärbel M, Laufer Sandra D, Shibamiya Aya, Krämer Elisabeth, Neuber Christiane, Hanke Sophia, Behrens Charlotta, Loos Malte, Münch Julia, Kühnisch Jirko, Klaassen Sabine, Eschenhagen Thomas, Patten-Hamel Monica, Carrier Lucie, Mearini Giulia
Abstract excerpt
MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy. We reprogrammed skin fibroblasts from a HCM patient carrying a heterozygous MYBPC3 truncating mutation into human induced pluripotent stem...
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