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.

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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
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article

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

Lanchen Wang, Hao Yuan, Wan Hua, Wenyu Xiong et al.
Stem Cell Research
Congenital heart defects research
article

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

Lanchen Wang, Hao Yuan, Wan Hua, Wenyu Xiong, Libo Liu, Jing Cheng
article en

Abstract

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.

Stem Cell ResearchVol. 90
Sichuan University (CN), West China Hospital of Sichuan University (CN)
Openalex Percentile: Top 95%
Congenital heart defects research
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