Establishment of human embryonic stem cell WAe009-A-48 carrying a long QT syndrome mutation in SCN5A

Abstract

The long QT syndrome type 3 (LQT3) is currently the 3rd most prevalent of the 15 known types of LQT syndrome. Cardiac events in LQT3 are less frequent than LQT1 and LQT2, but more likely to be fatal. LQT3 is caused by mutation in gene SCN5A, which codes for the Nav1.5 Na+ channel. Herein, we have generated a human embryonic stem cell line (WAe009-A-48) carrying a LQTS related mutation in SCN5A (WAe009-A-48). The WAe009-A-48 line maintained stem cell like morphology, pluripotency, normal karyotype and could differentiate into all three germ layers in vivo.