Generation and characterization of a human induced pluripotent stem cell line heterozygous for a NOTCH1 mutation (NCHi014-A)
Summary
NOTCH1 signaling is crucial for cardiovascular development. Numerous studies have identified heterozygous NOTCH1 loss of function and missense variants associated with a spectrum of congenital heart diseases (CHD). We generated induced pluripotent stem cells (iPSC) from a healthy individual to develop a model for NOTCH1+/- iPSC to study the molecular pathogenesis of CHD. NOTCH1+/-iPSC (NCHi014-A) have normal morphology and karyotype, are identical to the parental cell line, express pluripotency markers and have the ability to differentiate to the three germ layers. NOTCH1+/- iPSC can be used as a tool to study the cellular and molecular mechanisms underlying NOTCH1-associated human CHD. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Aljuhani M, Choudhury TZ, Yu Y, Ye S, Zhao M, Garg V |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Feb;74:103281 |
| PubMed | 38118204 |
| PubMed Central | PMC10845017 |
| DOI | 10.1016/j.scr.2023.103281 |