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

Mona Aljuhani; Talita Z. Choudhury; Yang Yu; Shiqiao Ye; Mingtao Zhao; Vidu Garg

Stem Cell Research (Feb 2024)

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

Mona Aljuhani,
Talita Z. Choudhury,
Yang Yu,
Shiqiao Ye,
Mingtao Zhao,
Vidu Garg

Affiliations

Mona Aljuhani: Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, USA; Biomedical Sciences Graduate Program, The Ohio State University, OH, USA
Talita Z. Choudhury: Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, USA; Molecular, Cellular, Developmental Biology Graduate Program, The Ohio State University, OH, USA
Yang Yu: Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, USA
Shiqiao Ye: Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, USA
Mingtao Zhao: Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, USA; The Heart Center, Nationwide Children’s Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA
Vidu Garg: Center for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, USA; Biomedical Sciences Graduate Program, The Ohio State University, OH, USA; Molecular, Cellular, Developmental Biology Graduate Program, The Ohio State University, OH, USA; The Heart Center, Nationwide Children’s Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA; Department of Molecular Genetics, The Ohio State University, Columbus, OH, USA; Corresponding author at: 700 Children's Drive WB4275, Nationwide Children's Hospital, Columbus, OH 43205.

Journal volume & issue: Vol. 74
p. 103281

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal