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  • Title: Generation of a human embryonic stem cell line WAe009-A-79 carrying a long QT syndrome mutation in KCNQ1.
    Author: Wang H, Guo T, Lan F.
    Journal: Stem Cell Res; 2023 Aug; 70():103119. PubMed ID: 37244124.
    Abstract:
    The voltage-gated potassium channel KvLQT1 encoded by KCNQ1 plays an important role in the repolarization of myocardial action potentials. KCNQ1 mutations can cause Long QT syndrome type 1 (LQT1), which is considered to be the most common causative gene of LQT. In this study, we established a human embryonic stem cell line KCNQ1L114P/+ (WAe009-A-79) carrying a LQT1 related mutation in KCNQ1. The WAe009-A-79 line maintains the morphology, pluripotency, and normal karyotype of stem cells, and can differentiate into all three germ layers in vivo.
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