Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant

Yen-Hui Chan; Chang-Han Ho; Cheng-Yu Tsai; 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 (Oct 2022)

Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant

Yen-Hui Chan,
Chang-Han Ho,
Cheng-Yu Tsai,
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
Chang-Han Ho: 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
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. 64
p. 102903

Abstract

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Pathogenic variants of OPA1 have been associated with autosomal dominant optic atrophy (DOA), leading to optic, auditory, and other sensorineural neuropathies and myopathies. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the OPA1 pathogenic variant c.1468T>C (p.Cys490Arg). 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 is a useful platform for investigating the pathogenic mechanisms of both blindness and deafness related to OPA1 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

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