GW29-e0632 Pathogenic mechanism and gene correction for LQTS-causing double-mutations in KCNQ1 using pluripotent stem cell model

Abstract

To establish KCNQ1 mutant-specific pluripotent stem cell (iPSC) model of Chinese LQTS patient and to differentiate iPSC into cardiomyocytes in order to explore the pathogenic mechanism of KCNQ1 mutations. (1) A proband with LQTS carrying KCNQ1 double-mutation (c. 605-2A>G/c. 815G>A) and his father