Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation

Hypoplastic left heart syndrome (HLHS) is a congenital heart malformation clinically characterized by an underdeveloped left ventricle, mitral or aortic valve stenosis or atresia, and narrowed ascending aorta. Although genetic etiology of HLHS is heterogenous, recurrent NOTCH1 variants have been ass...

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Autores principales: Adhicary, Subhodip, Ye, Shiqiao, Lin, Hui, Texter, Karen, Garg, Vidu, Zhao, Ming-Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904404/
https://www.ncbi.nlm.nih.gov/pubmed/36599283
http://dx.doi.org/10.1016/j.scr.2022.103013
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author Adhicary, Subhodip
Ye, Shiqiao
Lin, Hui
Texter, Karen
Garg, Vidu
Zhao, Ming-Tao
author_facet Adhicary, Subhodip
Ye, Shiqiao
Lin, Hui
Texter, Karen
Garg, Vidu
Zhao, Ming-Tao
author_sort Adhicary, Subhodip
collection PubMed
description Hypoplastic left heart syndrome (HLHS) is a congenital heart malformation clinically characterized by an underdeveloped left ventricle, mitral or aortic valve stenosis or atresia, and narrowed ascending aorta. Although genetic etiology of HLHS is heterogenous, recurrent NOTCH1 variants have been associated with this defect. We report generation of an iPSC line derived from a female with HLHS with a heterozygous missense NOTCH1 (c.2058G > A; p.Gly661Ser) mutation within the conserved EGF-like repeat 17. This iPSC line exhibited typical cellular morphology, normal karyotype, high expression of pluripotent markers, and trilineage differentiation potential; and can be leveraged to dissect the complex NOTCH1-mediated HLHS disease mechanism.
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spelling pubmed-99044042023-02-07 Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation Adhicary, Subhodip Ye, Shiqiao Lin, Hui Texter, Karen Garg, Vidu Zhao, Ming-Tao Stem Cell Res Article Hypoplastic left heart syndrome (HLHS) is a congenital heart malformation clinically characterized by an underdeveloped left ventricle, mitral or aortic valve stenosis or atresia, and narrowed ascending aorta. Although genetic etiology of HLHS is heterogenous, recurrent NOTCH1 variants have been associated with this defect. We report generation of an iPSC line derived from a female with HLHS with a heterozygous missense NOTCH1 (c.2058G > A; p.Gly661Ser) mutation within the conserved EGF-like repeat 17. This iPSC line exhibited typical cellular morphology, normal karyotype, high expression of pluripotent markers, and trilineage differentiation potential; and can be leveraged to dissect the complex NOTCH1-mediated HLHS disease mechanism. 2023-02 2022-12-31 /pmc/articles/PMC9904404/ /pubmed/36599283 http://dx.doi.org/10.1016/j.scr.2022.103013 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
Adhicary, Subhodip
Ye, Shiqiao
Lin, Hui
Texter, Karen
Garg, Vidu
Zhao, Ming-Tao
Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation
title Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation
title_full Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation
title_fullStr Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation
title_full_unstemmed Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation
title_short Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation
title_sort establishment of nchi009-a, an ipsc line from a patient with hypoplastic left heart syndrome (hlhs) carrying a heterozygous notch1 mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904404/
https://www.ncbi.nlm.nih.gov/pubmed/36599283
http://dx.doi.org/10.1016/j.scr.2022.103013
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