Generation and characterization of a human induced pluripotent stem cell line heterozygous for a NOTCH1 mutation (NCHi014-A)

被引：1
|
作者：
Aljuhani, Mona [1 ]
Choudhury, Talita Z. [1 ]
Yu, Yang [1 ]
Ye, Shiqiao [1 ]
Zhao, Mingtao [3 ,4 ]
Garg, Vidu [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
机构：
[1] Nationwide Childrens Hosp, Abigail Wexner Res Inst, Ctr Cardiovasc Res, Columbus, OH USA
[2] Ohio State Univ, Biomed Sci Grad Program, Columbus, OH 43221 USA
[3] Ohio State Univ, Mol Cellular Dev Biol Grad Program, Columbus, OH USA
[4] Nationwide Childrens Hosp, Heart Ctr, Columbus, OH 43054 USA
[5] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA
[6] Ohio State Univ, Dept Mol Genet, Columbus, OH 43210 USA
[7] Nationwide Childrens Hosp, 700 Childrens Dr WB4275, Columbus, OH 43205 USA
来源：
STEM CELL RESEARCH | 2024年 / 74卷
关键词：
D O I：
10.1016/j.scr.2023.103281
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：5
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