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Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene.
Zhu, Xinyue; Tang, Lu; Zhang, Ting; Bai, Xinyue; Chen, Jieqiong; Zhang, Lei; Gong, Yuanyuan; Jiang, Mei; Sun, Xiaodong.
Afiliação
  • 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
  • Tang L; Innostellar Biotherapeutics Co., Ltd., 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
  • 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
  • Zhang L; Innostellar Biotherapeutics Co., Ltd., Shanghai, China.
  • Gong Y; 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: 103423, 2024 Jun.
Article em En | MEDLINE | ID: mdl-38640637
ABSTRACT
Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with macular dystrophy and severe visual loss. Mutations in TIMP3 gene has been related to SFD with mechanisms unclear. We have successfully reprogrammed the peripheral blood mononuclear cells (PBMCs) from an SFD patient carrying c.484G>A mutation in TIMP3 gene to induced pluripotent stem cells (iPSCs) and characterized their pluripotency and genetic stability. This line may serve as a useful tool to explore the role of TIMP3 in SFD pathogenesis.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inibidor Tecidual de Metaloproteinase-3 / Células-Tronco Pluripotentes Induzidas / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inibidor Tecidual de Metaloproteinase-3 / Células-Tronco Pluripotentes Induzidas / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article