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
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.
Authors
- Lanchen Wang
- Hao Yuan (ORCID: https://orcid.org/0000-0003-2573-7669)
- Wan Hua
- Wenyu Xiong (ORCID: https://orcid.org/0009-0005-9285-8825)
- Libo Liu
- Jing Cheng
Institutions
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1016/j.scr.2026.103906
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00