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Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene.
Bai, Xinyue; Chen, Jieqiong; Zhao, Xiaohuan; Zhu, Xinyue; Ding, Xiaoyan; Zhang, Ting; Jiang, Mei; Sun, Xiaodong.
Afiliación
  • Bai X; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shangh
  • Chen J; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shangh
  • Zhao X; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shangh
  • Zhu X; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shangh
  • Ding X; Stem Cell Core Facility, CAS Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai, China.
  • Zhang T; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shangh
  • Jiang M; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shangh
  • Sun X; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shangh
Stem Cell Res ; 77: 103390, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38507880
ABSTRACT
Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinopathy resulting in irreversible loss of vision. Mutations in RAX2 gene has been related to RP with mechanisms unclear. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a RP patient carrying c.77C > T mutation in RAX2 gene. This cell line was induced by integration-free episomal vectors and validated for pluripotency and differentiation capacity, which may serve as a model to study the role of RAX2 in RP pathogenesis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas de Homeodominio / Células Madre Pluripotentes Inducidas / Mutación Límite: Humans / Male Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas de Homeodominio / Células Madre Pluripotentes Inducidas / Mutación Límite: Humans / Male Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido