Key result
An induced pluripotent stem cell line (ICGi047-A) was successfully generated from a patient with hypertrophic cardiomyopathy carrying the MYBPC3 c.966G>A variant, demonstrating pluripotency and a normal karyotype.
Why the study?
Hypertrophic cardiomyopathy is a common inherited cardiovascular disease, but the molecular mechanisms underlying its development are not fully understood.
Population
1 patient with HCM carrying the pathogenic variant c.966G>A in MYBPC3
Design
In vitro stem cell reprogramming study
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Offers patient-specific iPSC platform for HCM research; leaves open clinical translation pending functional studies.
The generation of an iPSC line from an HCM patient with a MYBPC3 mutation provides a valuable in vitro model to study the molecular mechanisms underlying hypertrophic cardiomyopathy.
A 2025 study studied Hypertrophic cardiomyopathy (n=1). Reprogramming of peripheral blood mononuclear cells using non-integrating episomal vectors was evaluated on Generation and characterization of an induced pluripotent stem cell line. An induced pluripotent stem cell line (ICGi047-A) was successfully generated from a patient with hypertrophic cardiomyopathy carrying the MYBPC3 c.966G>A variant, demonstrating pluripotency and a normal karyotype.
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