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

Conclusions— Our study confirms the pathogenicity of Kir2.1-52V in 1 patient with long-QT syndrome and also supports the use of isogenic human induced pluripotent stem cell–derived cardiomyocytes as a physiologically relevant model for the screening of variants of unknown function.

http://circgenetics.ahajournals.org/cgi/content/short/10/5/e001755?rss=1

Source: Circulation: Cardiovascular Genetics - October 11, 2017 Category: Cardiology Authors: Gelinas, R., El Khoury, N., Chaix, M.-A., Beauchamp, C., Alikashani, A., Ethier, N., Boucher, G., Villeneuve, L., Robb, L., Latour, F., Mondesert, B., Rivard, L., Goyette, P., Talajic, M., Fiset, C., Rioux, J. D. Tags: Arrhythmias, Electrophysiology, Sudden Cardiac Death, Stem Cells, Genetics Original Articles Source Type: research