Article
cMyBP-C ablation in human engineered cardiac tissue causes progressive Ca2+-handling abnormalities.
The Journal of general physiology - 3 Apr 2023
De Lange Willem J, Farrell Emily T, Hernandez Jonathan J, Stempien Alana, Kreitzer Caroline R, Jacobs Derek R, Petty Dominique L, Moss Richard L, Crone Wendy C, Ralphe J Carter
Abstract excerpt
Truncation mutations in cardiac myosin binding protein C (cMyBP-C) are common causes of hypertrophic cardiomyopathy (HCM). Heterozygous carriers present with classical HCM, while homozygous carriers present with early onset HCM that rapidly progress to heart failure. We used CRISPR-Cas9 to introduce heterozygous (cMyBP-C+/-) and homozygous (cMyBP-C-/-) frame-shift mutations into MYBPC3 in human iPSCs....
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