Key result
Two human-induced pluripotent stem cell lines were successfully generated from two Long QT syndrome patients carrying a missense mutation in SNTA1 (c.1088A > C) and showed normal pluripotency.
Why the study?
Long QT syndrome is an inherited disorder with over 15 causative genes including SNTA1, prompting the generation of patient-derived cell models to investigate pathological mechanisms of SNTA1 variants.
The generation of these iPSC lines provides a valuable tool to model LQTS and investigate the pathological mechanisms related to the SNTA1 variant.
These iPSC lines may model SNTA1-related LQTS; leaves open mechanistic validation and therapeutic translation.
Long QT syndrome (LQTS) is an inherited cardiovascular disorder characterized by electrical conduction abnormalities leading to arrhythmia, fainting, seizures, and an increased risk of sudden death. There are over 15 genes involved in causing LQTS, including SNTA1. Here we generated two human-induced pluripotent stem cell (iPSC) lines from two LQT patients carrying a missense mutation in SNTA1 (c.1088A > C). Both lines showed normal morphological properties, expressed pluripotency markers, showed a normal karyotype profile, and had the ability to differentiate into the three germ layers, making them a valuable tool to model LQTS to investigate the pathological mechanisms related to this SNTA1 variant.
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Jiménez-Téllez et al. (2022) studied Long QT syndrome (LQTS) (n=2). Generation of iPSC lines was evaluated on Generation and characterization of iPSC lines. Two human-induced pluripotent stem cell lines were successfully generated from two Long QT syndrome patients carrying a missense mutation in SNTA1 (c.1088A > C) and showed normal pluripotency.
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