Generation of the maternal iPSC line NCHi030-A from an unaffected heterozygous NOTCH1 variant carrier in a family with hypoplastic left heart syndrome.

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.