Thursday, January 31, 2013
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Induced pluripotent stem
(iPS) cell-derived models of familial hypertrophic cardiomyopathy (HCM)
Patient-derived iPS cell
models of familial HCM could help identify new treatments for the disease.
HCM is a hereditary heart disease caused by many distinct mutations that
affect cardiac muscle function. iPS cell-derived cardiomyocytes were
generated from fibroblasts from patients with HCM carrying a mutation in myosin heavy chain 7 cardiac muscle-b
cardiomyocytes showed disease-associated phenotypes including increased cell
size and multinucleation compared with cardiomyocytes derived from healthy
subjects and showed abnormal calcium signaling. In these cells, a calcium
channel blocker decreased hypertrophy compared with no treatment. Ongoing
work includes developing a patient-specific iPS cell disease library and
screening for HCM therapeutics.
SciBX 6(4); doi:10.1038/scibx.2013.97
Published online Jan. 31, 2013
Patent and licensing status
Lan, F. et al. Cell Stem
Cell; published online Jan. 3, 2013;
Contact: Joseph C. Wu, Stanford University School of
Medicine, Stanford, Calif.
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