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Article

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

Stem cell research - 1 Mar 2026

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

Abstract excerpt

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...

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Identifiers

PMID: 41539084
DOI: 10.1016/j.scr.2026.103912
PMCID: PMC12994608

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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