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


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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Li S, He C, Feng Q, Bai Y, Liu X, Ling J, Mei L, Wu X, Feng Y, Song J
Journal Stem cell research
Publication Date 2022 Oct;64:102916
PubMed 36126472
DOI 10.1016/j.scr.2022.102916

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