Key result
New patient-derived iPSC lines model MYH7-mutant hypertrophic cardiomyopathy.
Why the study?
Hypertrophic cardiomyopathy is characterized by abnormal left ventricular thickening and the mechanisms underlying its pathogenesis require further study using patient-specific models.
Answers are grounded in this paper and cite their sources.
The generation of these iPSC clones provides a valuable resource for modeling hypertrophic cardiomyopathy and studying its pathogenesis in derived cardiomyocytes.
Hypertrophic cardiomyopathy (HCM) is the most common form of genetic heart disease and is characterized by abnormal thickening of the left ventricular wall and interventricular septum. Here we describe the generation of two induced pluripotent stem cell (iPSC) clones from a HCM patient, heterozygous for the p.Arg723Gly (c.2169C > G) mutation in the MYH7 gene. The generated iPSC clones may provide a useful resource for disease modelling to study the mechanisms underlying HCM pathogenesis in iPSC derived progenies, in particular cardiomyocytes.
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Merkert et al. (2021) studied Hypertrophic cardiomyopathy (HCM) (n=1). Generation of iPSC clones was evaluated on Generation of iPSC clones for disease modelling. Two induced pluripotent stem cell (iPSC) clones were successfully generated from a hypertrophic cardiomyopathy patient heterozygous for the p.Arg723Gly mutation in the MYH7 gene for disease modelling.
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