Articles with "r403l mutation" as a keyword



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Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.

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Published in 2021 at "Stem cell research"

DOI: 10.1016/j.scr.2021.102245

Abstract: MYH7 is a major gene responsible for hypertrophic cardiomyopathy (HCM). From patient's skin fibroblasts, we derived an iPSC line (CDGEN1.16) harboring the heterozygous MYH7 R403L mutation, a hot-spot codon in HCM. We subsequently corrected the… read more here.

Keywords: r403l mutation; line; crispr cas9; hypertrophic cardiomyopathy ... See more keywords