Generation of the maternal iPSC line NCHi030-A from an unaffected heterozygous NOTCH1 variant carrier in a family with hypoplastic left heart syndrome
Summary
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. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Winbigler J, Alonzo M, Argall A, Yu Y, Zhao MT |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 May 12;94:104014 |
| PubMed | 42161106 |
| DOI | 10.1016/j.scr.2026.104014 |