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Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant.
Chan, Yen-Hui; Tsai, Cheng-Yu; Ho, Chang-Han; Lu, Ying-Chang; Lin, Pei-Hsuan; Chen, Ta-Ching; Chen, You-Tzung; Huang, Cheng-Yen; Liu, Tien-Chen; Hsu, Chuan-Jen; Wu, Chen-Chi.
Afiliación
  • 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.
  • 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.
  • Ho CH; Department of Otolaryngology, National Taiwan University Hospital, 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 ; 69: 103068, 2023 06.
Article en En | MEDLINE | ID: mdl-36933359
ABSTRACT
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Wolfram / Células Madre Pluripotentes Inducidas / Pérdida Auditiva Límite: Female / Humans Idioma: En Revista: Stem Cell Res Año: 2023 Tipo del documento: Article País de afiliación: Taiwán
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Wolfram / Células Madre Pluripotentes Inducidas / Pérdida Auditiva Límite: Female / Humans Idioma: En Revista: Stem Cell Res Año: 2023 Tipo del documento: Article País de afiliación: Taiwán