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

Yen-Hui Chan; Cheng-Yu Tsai; Chang-Han Ho; Ying-Chang Lu; Pei-Hsuan Lin; Ta-Ching Chen; You-Tzung Chen; Cheng-Yen Huang; Tien-Chen Liu; Chuan-Jen Hsu; Chen-Chi Wu

Stem Cell Research (Jun 2023)

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

Yen-Hui Chan,
Cheng-Yu Tsai,
Chang-Han Ho,
Ying-Chang Lu,
Pei-Hsuan Lin,
Ta-Ching Chen,
You-Tzung Chen,
Cheng-Yen Huang,
Tien-Chen Liu,
Chuan-Jen Hsu,
Chen-Chi Wu

Affiliations

Yen-Hui Chan: Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Cheng-Yu Tsai: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan
Chang-Han Ho: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Ying-Chang Lu: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Pei-Hsuan Lin: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Ta-Ching Chen: Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan
You-Tzung Chen: Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan
Cheng-Yen Huang: Gene Knockout/in Cell Line Modeling Core, Human Disease Modeling Center, First Core Laboratory, Branch Office of Research and Development, College of Medicine, National Taiwan University, Taiwan
Tien-Chen Liu: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Chuan-Jen Hsu: Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan; Corresponding authors.
Chen-Chi Wu: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Corresponding authors.

Journal volume & issue: Vol. 69
p. 103068

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal