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Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant.
Chan, Yen-Hui; Ho, Chang-Han; Tsai, Cheng-Yu; Lu, Ying-Chang; Lin, Pei-Hsuan; Chen, Ta-Ching; Chen, You-Tzung; Huang, Cheng-Yen; Liu, Tien-Chen; Hsu, Chuan-Jen; Wu, Chen-Chi.
Afiliação
  • Chan YH; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
  • Ho CH; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
  • Tsai CY; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
  • Lu YC; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
  • Lin PH; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
  • Chen TC; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
  • Chen YT; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
  • Huang CY; 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.
  • Liu TC; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
  • Hsu CJ; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan. Electronic address: cjhsu@ntu.edu.tw.
  • Wu CC; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chenchiwu@ntuh.gov.tw.
Stem Cell Res ; 64: 102903, 2022 10.
Article em En | MEDLINE | ID: mdl-36075118
ABSTRACT
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / Células-Tronco Pluripotentes Induzidas / Perda Auditiva Limite: Female / Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / Células-Tronco Pluripotentes Induzidas / Perda Auditiva Limite: Female / Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2022 Tipo de documento: Article