Key result
An induced pluripotent stem cell (iPSC) line was successfully generated from a 62-year-old male patient with hypertrophic cardiomyopathy carrying a MYBPC3 c.3369-3370 insC mutation.
The successful generation of this HCM-specific iPSC line provides a valuable in vitro tool for studying and modeling hypertrophic cardiomyopathy.
Answers are grounded in this paper and cite their sources.
No immediate clinical impact; extends patient-specific iPSC modeling for MYBPC3-related HCM.
Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes abnormally thick making it difficult for the heart to pump blood. In this study an induced pluripotent stem cells (iPSC) line was derived from peripheral blood mononuclear cells of a 62-year-old male hypertrophic cardiomyopathy (HCM) patient with the mutation of heterozygous pathogenic myosin binding protein C (MYBPC3) c.3369-3370 insC using an episomal method. The generated iPSC line presented normal 46, XY male karyotypes, expressed pluripotent markers and could spontaneously differentiate into triblast cells. This HCM-specific iPSC line could act as a useful tool for studying and modeling hypertrophic cardiomyopathy.
No takes yet. Share an insight, caveat, or question.
Jin et al. (2020) studied Hypertrophic cardiomyopathy (HCM) (n=1). Generation of an induced pluripotent stem cell (iPSC) line using an episomal method was evaluated on Generation and characterization of iPSC line. An induced pluripotent stem cell (iPSC) line was successfully generated from a 62-year-old male patient with hypertrophic cardiomyopathy carrying a MYBPC3 c.3369-3370 insC mutation.
Synapse has enriched 10 related papers. Consider them for comparative context: