ArticleStem cell research2026
Generation of the maternal iPSC line NCHi030-A from an unaffected heterozygous NOTCH1 variant carrier in a family with hypoplastic left heart syndrome.
Article in Stem cell research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Mutations in the NOTCH1 gene are associated with a higher incidence of hypoplastic left heart syndrome (HLHS) in newborns. NCHi030-A is an iPSC line derived from peripheral blood mononuclear cells of the unaffected mother of a patient with hypoplastic left heart syndrome. Both individuals harbor the same heterozygous NOTCH1 missense variant (c.2058G > A); however, only the child is affected, suggesting incomplete penetrance. NCHi030-A serves as a genetically matched, unaffected control for comparative studies with NCHi009-A, an iPSC line derived from the subject's symptomatic HLHS daughter, to investigate variable expressivity and modifier mechanisms in NOTCH1-associated HLHS.
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