Journal
JACC-BASIC TO TRANSLATIONAL SCIENCE
Volume 3, Issue 6, Pages 728-740Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacbts.2018.08.008
Keywords
disease-modeling; engineered heart tissue; genetic cardiomyopathy; induced pluripotent stem cells
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Funding
- Robert B. McMillen Foundation
- Fondation Leducq Transatlantic Networks of Excellence
- National Institutes of Health [P01 HL094374, R01HL128362, R01 HL084642, P01 GM081619, U01 HL100405, R01HL135143, R01 HL111197, R01 HL128368]
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A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell-derived cardiomyocytes. The cardiomyopathic human induced pluripotent stem cell-derived cardiomyocytes exhibited reduced contractile function as single cells and engineered heart tissues, and genome-edited isogenic cells confirmed the pathogenic nature of the E848G mutation. Reduced contractility may result from impaired interaction between myosin heavy chain 7 and cardiac myosin binding protein C. (C) 2018 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.
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