Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a KCNJ2 Mutation

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 technologies are use...

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Veröffentlicht in:	Circulation. Cardiovascular genetics 2017-10, Vol.10 (5)
Hauptverfasser:	Gélinas, Roselle, El Khoury, Nabil, Chaix, Marie-A, 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:	Adult Amino Acid Substitution Female HEK293 Cells Humans Induced Pluripotent Stem Cells - metabolism Induced Pluripotent Stem Cells - pathology Long QT Syndrome - genetics Long QT Syndrome - metabolism Long QT Syndrome - pathology Models, Biological Mutation, Missense Myocytes, Cardiac - metabolism Myocytes, Cardiac - pathology Potassium Channels, Inwardly Rectifying - genetics Potassium Channels, Inwardly Rectifying - metabolism
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