2. Academic Validation
  3. Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene

Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene

  • Stem Cell Res. 2022 Sep 15;64:102916. doi: 10.1016/j.scr.2022.102916.
SiJun Li 1,  Chufeng He 1,  Qi Feng 1,  YiJiang Bai 1,  Xianlin Liu 1,  Jie Ling 2,  Lingyun Mei 1,  XueWen Wu 1,  Yong Feng 3,  Jian Song 1
Affiliations

Affiliations

  • 1 Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • 2 National Medical Functional Experimental Teaching Demonstration Center, School of Basic Medical Science, Central South University, Changsha 410008, Hunan, China.
  • 3 Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Changsha Central Hospital affiliated to University of South China, Changsha 410004, Hunan, China; Institute of Otorhinolaryngology, Head and Neck Surgery, University of South China, Changsha 410004, Hunan, China.
PMID: 36126472 DOI: 10.1016/j.scr.2022.102916
Abstract

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.

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