Evidence map›Paper›PMID 41539084›Full record

ArticleStem cell research2026

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

Jin Zhao, Rong Hu, Kuan Chen Lai, Yaling Liu, Gordon G Carmichael, Donna M Martin, Laijun Lai

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Jin ZhaoDepartment of Allied Health Sciences, University of Connecticut, Storrs, CT, USA.
Rong HuDepartment of Allied Health Sciences, University of Connecticut, Storrs, CT, USA.
Kuan Chen LaiDepartment of Allied Health Sciences, University of Connecticut, Storrs, CT, USA.
Yaling LiuDepartment of Department of Genetics and Genome Sciences, University of Connecticut Health, Farmington, CT, USA.
Gordon G CarmichaelDepartment of Department of Genetics and Genome Sciences, University of Connecticut Health, Farmington, CT, USA.
Donna M MartinDepartments of Pediatrics and Human Genetics, University of Michigan, MI, USA.
Laijun LaiDepartment of Allied Health Sciences, University of Connecticut, Storrs, CT, USA; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA. Electronic address: laijun.lai@uconn.edu.

Funding

Modeling and treating T cell immunodeficiency in CHARGE syndrome by ESC- and iPSC-derived thymic epithelial cellsR01AI175087 · NIAID · UNIVERSITY OF CONNECTICUT STORRS · PI Laijun Lai · 2023 to 2026
$1.8M
NIAID NIH HHS R01 AI175087
6 · The paper itself

Abstract

CHARGE syndrome is a rare, complex congenital disorder affecting multiple organ systems, with CHD7 identified as its primary causative gene. Individuals with CHARGE syndrome can exhibit T cell immunodeficiency, which compromises adaptive immunity and increases susceptibility to infections. T cell immunodeficiency in CHARGE syndrome is largely attributed to thymic hypo/aplasia. In this study, we generated an induced pluripotent stem cell (iPSC) line from the blood of a 21-month-old female with CHARGE syndrome and athymia who carries a de novo CHD7 pathogenic variant, c.1366C > T (p.Q456*). This iPSC line provides a valuable model for investigating the pathogenesis of CHARGE-associated T cell immunodeficiency.

Indexed as

CHARGE SyndromeDNA-Binding ProteinsDNA HelicasesInduced Pluripotent Stem CellsMutationFemaleHeterozygoteHumansInfantCHD7 protein, humanDNA-Binding ProteinsDNA Helicases

Identifiers

PMID41539084
PMCPMC12994608

What OpenQuestion holds

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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.