Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene
oleh: SiJun Li, Chufeng He, Qi Feng, YiJiang Bai, Xianlin Liu, Jie Ling, Lingyun Mei, XueWen Wu, Yong Feng, Jian Song
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-10-01 |
Deskripsi
The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene. It manifests in their children as Enlarged vestibular aqueduct (EVA). The use of iPSC will allow describing the early stages of hearing loss, which is undoubtedly relevant for identifying key stages of development at which phenotypic manifestations of mutations in the SLC26A4 gene are found.