AI Article Synopsis
- The KCNQ1 gene encodes the KvLQT1 potassium channel, crucial for repolarizing heart action potentials, and its mutations can lead to Long QT syndrome type 1 (LQT1), the most common genetic cause of this condition.
- Researchers created a human embryonic stem cell line (WAe009-A-79) with a mutation linked to LQT1, enabling study of this syndrome.
- The WAe009-A-79 stem cell line retains normal stem cell characteristics, including morphology, pluripotency, and the ability to differentiate into all three germ layers.
Article 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 KCNQ1 (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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| http://dx.doi.org/10.1016/j.scr.2023.103119 | DOI Listing |
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