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