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

Stem Cell Research 2026 Open access

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Authors: Wan Hua, Libo Liu, Lanchen Wang, Wenyu Xiong, Hao Yuan, Jing Cheng
DOI: 10.1016/j.scr.2026.103906
Cited by: 0
References: 5

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.

Fields of Study & Subjects

Congenital heart defects research Genomics and Rare Diseases Hearing Cochlea Tinnitus Genetics

Publication details

Journal / source
Stem Cell Research
Volume
90
Pages
103906–103906
Publication date
7 January 2026
Language
EN