Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant


Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the WFS1 pathogenic variant c.2051C > T (p.Ala684Val). The resulting induced pluripotent stem cells exhibited a normal karyotype and pluripotency, as confirmed using immunofluorescence staining, and differentiated into three germ layers in vivo. This cellular model provides a useful platform for investigating the pathogenic mechanisms of both blindness and deafness related to WFS1 variants. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chan YH, Tsai CY, Ho CH, Lu YC, Lin PH, Chen TC, Chen YT, Huang CY, Liu TC, Hsu CJ, Wu CC
Journal Stem cell research
Publication Date 2023 Jun;69:103068
PubMed 36933359
DOI 10.1016/j.scr.2023.103068

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