Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.
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DOI: 10.1016/j.scr.2021.102489
Abstract: 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.… read more here.
Keywords: allelic mybpc3; hypertrophic cardiomyopathy; mybpc3; isogenic control ... See more keywords