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iPs CPVT1 Cell Line

Info

Host Human
Tissue Fibroblast
Disease Keywords Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1)
Model Mutant
Relevance Induced pluripotent stem (iPS) cells generated from accessible adult cells of patients with genetic diseases open unprecedented opportunities for exploring the pathophysiology of human diseases in vitro. Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is an inherited cardiac disorder that is caused by mutations in the cardiac ryanodine receptor type 2 gene (RYR2) and is characterized by stress-induced ventricular arrhythmia that can lead to sudden cardiac death in young individuals. The aim of this study was to generate iPS cells from a patient with CPVT1 and determine whether iPS cell-derived cardiomyocytes carrying patient specific RYR2 mutation recapitulate the disease phenotype in vitro.
Production Details iPS cells were derived from dermal fibroblasts of healthy donors and a patient with CPVT1 carrying the novel heterozygous autosomal dominant mutation p.F2483I in the RYR2.
Research Area Cardiovascular, Drug Discovery & Development
Recommended Growing Conditions Glutamax, 20% knockout serum replacer, 1% NAA 0.1 mM BME, 50 ng/ml FGF

References

There are 2 reference entries for this reagent.

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References: 2 entries

In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.

Europe PMC ID: 22178870

Fatima et al. 2011. Cell Physiol Biochem. 28(4):579-92. PMID: 22178870.


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References: 2 entries

In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.

Fatima et al. 2011. Cell Physiol Biochem. 28(4):579-92. PMID: 22178870.


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