Azra Fatima Shao Kaifeng Sven Dittmann Guoxing Xu Manoj K Gupta Matthias Linke Ulrich Zechner Filomain Nguemo Hendrik Milting Martin Farr Jürgen Hescheler Tomo Sarić
10.1371/journal.pone.0083005
PLoS One
2013 Dec 11;8(12):e83005.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24349418/
Action Potentials / genetics Long QT Syndrome / genetics Long QT Syndrome / metabolism Long QT Syndrome / pathology Long QT Syndrome / physiopathology Membrane Potentials / genetics Myocytes, Cardiac / metabolism Myocytes, Cardiac / pathology NAV1.5 Voltage-Gated Sodium Channel / genetics NAV1.5 Voltage-Gated Sodium Channel / metabolism Pluripotent Stem Cells / metabolism Pluripotent Stem Cells / pathology Point Mutation
Action Potentials / genetics Long QT Syndrome / genetics Long QT Syndrome / metabolism Long QT Syndrome / pathology Long QT Syndrome / physiopathology Membrane Potentials / genetics Myocytes, Cardiac / metabolism Myocytes, Cardiac / pathology NAV1.5 Voltage-Gated Sodium Channel / genetics NAV1.5 Voltage-Gated Sodium Channel / metabolism Pluripotent Stem Cells / metabolism Pluripotent Stem Cells / pathology Point Mutation Case Reports Clinical Trial Research Support, Non-U.S. Gov't Adult Cell Differentiation / genetics Cells, Cultured Female Humans Male NAV1.5 Voltage-Gated Sodium Channel SCN5A protein, human
PMC3859612
24349418
The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients
2013