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Article

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

Stem cell research - 1 Feb 2023

Adhicary Subhodip, Ye Shiqiao, Lin Hui, Texter Karen, Garg Vidu, Zhao Ming-Tao

Abstract excerpt

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...

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Share to Heart Defects, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36599283
DOI: 10.1016/j.scr.2022.103013
PMCID: PMC9904404

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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