Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation
Summary
Heterozygous TBX2 mutations cause a novel syndrome with hearing loss and incomplete nystagmus, while its pathogenic mechanism remains unclear. Here, we established the iPSC line IRDWCHi001-A from peripheral blood mononuclear cells of a patient carrying TBX2 c.977delA (p.D326Afs*42) via Sendai virus reprogramming. The generated iPSC line showed typical stem cell morphology, pluripotency marker expression, normal karyotype, and trilineage differentiation potential. It provides a valuable resource for modeling TBX2-associated hearing loss and investigating its underlying mechanisms. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hua W, Liu L, Wang L, Xiong W, Yuan H, Cheng J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Feb;90:103906 |
| PubMed | 41512733 |
| DOI | 10.1016/j.scr.2026.103906 |