AI Article Synopsis
- Hypertrophic cardiomyopathy (HCM) is a genetic heart condition that leads to thickening of the heart muscle, increasing the chances of serious issues like arrhythmias and sudden cardiac death.
- Researchers created two human-induced pluripotent stem cell (iPSC) lines from HCM patients, each with a mutation in key genes (MYBPC3 and PRKAG2).
- These iPSC lines show typical pluripotent characteristics and can differentiate into various cell types, which could help in studying HCM and its underlying causes in a lab setting.
Article Abstract
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem cell lines from two HCM patients carrying two heterozygous mutations in MYBPC3 (c.459delC) and PRKAG2 (c.1703C > T). Both iPSC lines expressed pluripotent markers, had a normal karyotype, and were able to differentiate into three germ layers, making them potentially valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to these two variants.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9708393 | PMC |
| http://dx.doi.org/10.1016/j.scr.2022.102774 | DOI Listing |
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