Evidence map›Paper›PMID 40378586›Full record

ArticleStem cell research2025

Characterization of an induced pluripotent stem cell line NCHi025-A from a 1-year-old female with pulmonary stenosis harboring a heterozygous HAND2 variant.

Aaron Argall, Shiqiao Ye, Amanda Moccia, Brandon Stone, Jesse Hunter, Vidu Garg, Ming-Tao Zhao

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PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Aaron ArgallCenter for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
Shiqiao YeCenter for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
Amanda MocciaDepartment of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
Brandon StoneDivision of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Jesse HunterSteve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
Vidu GargCenter 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 College of Medicine, Columbus, OH, USA; Dorothy M Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Ming-Tao ZhaoCenter 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 College of Medicine, Columbus, OH, USA; Dorothy M Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Electronic address: Mingtao.Zhao@nationwidechildrens.org.

Funding

An integrated human stem cell model for elucidating NOTCH signaling in myocardial-endocardial interactions in cardiac development and diseaseR01HL155282 · NHLBI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI Mingtao Zhao · 2021 to 2026
$3.2M
American Heart Association-American Stroke Association 23IPA1046350American Heart Association-American Stroke Association 24AVCSASV1277994American Heart Association-American Stroke Association 24TPA1288584NHLBI NIH HHS R01 HL155282NIH HHS HL155282-04S3
6 · The paper itself

Abstract

HAND2 is a transcription factor that plays a vital role in the development of the heart, limbs, and pharyngeal arch. Functional defects in HAND2 have been shown to cause congenital malformations in the extremities of the body and the heart. NCHi025-A iPSC line was generated from a 1-year-old female with pulmonary stenosis and harbors a novel de novo heterozygous variant of uncertain significance within HAND2 (NM_021973.3; c.247delG; p.Val83CysfsTer16). This variant causes a frameshift and premature stop codon that is predicted to truncate the protein. NCHi025-A is a pluripotent stem cell line that can be leveraged to investigate HAND2-associated phenotypic development.

Indexed as

Basic Helix-Loop-Helix ProteinsInduced Pluripotent Stem CellsPulmonary Valve StenosisCell LineFemaleHeterozygoteHumansInfantBasic Helix-Loop-Helix ProteinsHAND2 protein, human

Identifiers

PMID40378586
PMCPMC12276957

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.