Characterization of a Human Induced Pluripotent Stem Cell–Derived Cardiomyocyte Model for the Study of Variant Pathogenicity

Background—Long-QT syndrome is a potentially fatal condition for which 30% of patients are without a genetically confirmed diagnosis. Rapid identification of causal mutations is thus a priority to avoid at-risk situations that can lead to fatal cardiac events. Massively parallel sequencing technolog...

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Veröffentlicht in:	Circulation. Cardiovascular genetics 2017-10, Vol.10 (5), p.e001755-e001755
Hauptverfasser:	Gélinas Roselle, El Khoury Nabil, Marie-A, Chaix, Beauchamp Claudine, Alikashani Azadeh, Ethier Nathalie, Boucher, Gabrielle, Villeneuve, Louis, Robb, Laura, Latour Frédéric, Mondesert Blandine, Rivard, Lena, Goyette, Philippe, Talajic Mario, Fiset Céline, Rioux, John David
Format:	Artikel
Sprache:	eng
Schlagworte:	Action potential Cardiomyocytes Coronary artery disease Electrocardiography Heart diseases Immunohistochemistry Mutation Pathogenicity Pluripotency Potassium channels (inwardly-rectifying) Protein transport Stem cells
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