Why the study?
To generate an induced pluripotent stem cell line to allow further assessment of the pathophysiological development of hypertrophic cardiomyopathy.
Population
One 38-year-old female patient with HCM carrying the pathogenic p.Arg403Gln mutation in myosin heavy chain 7
Design
In vitro stem cell line generation study
Authors
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Patient-specific iPSC line enables HCM disease modeling; leaves open therapeutic translation pending validation.
The generation of this patient-specific iPSC line provides a valuable resource for studying the pathophysiological mechanisms of hypertrophic cardiomyopathy caused by the MYH7 p.Arg403Gln mutation.
Holliday et al. (2018) studied this question.
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