Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7
Summary
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. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhao J, Hu R, Lai KC, Liu Y, Carmichael GG, Martin DM, Lai L |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Mar;91:103912 |
| PubMed | 41539084 |
| PubMed Central | PMC12994608 |
| DOI | 10.1016/j.scr.2026.103912 |