Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants

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-induce...

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Autores principales: Jimenez-Tellez, Nerea, Vera, Carlos D., Yildirim, Zehra, Guevara, Julio Vicente, Zhang, Tina, Wu, Joseph C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029814/
https://www.ncbi.nlm.nih.gov/pubmed/36528013
http://dx.doi.org/10.1016/j.scr.2022.103003
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author Jimenez-Tellez, Nerea
Vera, Carlos D.
Yildirim, Zehra
Guevara, Julio Vicente
Zhang, Tina
Wu, Joseph C.
author_facet Jimenez-Tellez, Nerea
Vera, Carlos D.
Yildirim, Zehra
Guevara, Julio Vicente
Zhang, Tina
Wu, Joseph C.
author_sort Jimenez-Tellez, Nerea
collection PubMed
description 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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spelling pubmed-100298142023-03-21 Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants Jimenez-Tellez, Nerea Vera, Carlos D. Yildirim, Zehra Guevara, Julio Vicente Zhang, Tina Wu, Joseph C. Stem Cell Res Article 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. 2023-02 2022-12-12 /pmc/articles/PMC10029814/ /pubmed/36528013 http://dx.doi.org/10.1016/j.scr.2022.103003 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Jimenez-Tellez, Nerea
Vera, Carlos D.
Yildirim, Zehra
Guevara, Julio Vicente
Zhang, Tina
Wu, Joseph C.
Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants
title Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants
title_full Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants
title_fullStr Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants
title_full_unstemmed Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants
title_short Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants
title_sort generation of two ipsc lines from long qt syndrome patients carrying snta1 variants
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029814/
https://www.ncbi.nlm.nih.gov/pubmed/36528013
http://dx.doi.org/10.1016/j.scr.2022.103003
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