Stem cell researchHumansInduced Pluripotent Stem CellsT-Box Domain ProteinsHearing LossHeterozygote
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.
Wan Hua, Libo Liu, Lanchen Wang, Wenyu Xiong, Huijun Yuan, Jing Cheng
Published: 202610.1016/j.scr.2026.103906
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 carryi…
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