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Establishment of the induced pluripotent stem cell line SJTUGHi002-A from a CNGA1-related recessive retinitis pigmentosa patient.
Wu, Yidong; Zhang, Ting; Chen, Zhixuan; Tang, Lu; Zhang, Lei; Chen, Jieqiong; Wan, Xiaoling; Sun, Xiaodong.
Afiliação
  • Wu Y; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China; National Clinical Research Center for Eye Diseases, Shanghai 200080, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai 200080, China.
  • Zhang T; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China; National Clinical Research Center for Eye Diseases, Shanghai 200080, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai 200080, China.
  • Chen Z; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China; National Clinical Research Center for Eye Diseases, Shanghai 200080, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai 200080, China.
  • Tang L; Innostellar Biotherapeutics Co., Ltd., Shanghai, China.
  • Zhang L; Innostellar Biotherapeutics Co., Ltd., Shanghai, China.
  • Chen J; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China; National Clinical Research Center for Eye Diseases, Shanghai 200080, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai 200080, China. Electronic address:
  • Wan X; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China; National Clinical Research Center for Eye Diseases, Shanghai 200080, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai 200080, China. Electronic address:
  • Sun X; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China; National Clinical Research Center for Eye Diseases, Shanghai 200080, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai 200080, China.
Stem Cell Res ; 76: 103334, 2024 Apr.
Article em En | MEDLINE | ID: mdl-38340451
ABSTRACT
Retinitis pigmentosa (RP) is the most common inherited retinal diseases, characterized by photoreceptor cell death and retinal pigment epithelial atrophy. Mutations in cyclic nucleotide gated channel subunit alpha 1 (CNGA1) have been reported to cause retinitis pigmentosa. Here, we established the human induced pluripotent stem cell line (iPSC) SJTUGHi002-A, generated from peripheral blood mononuclear cells of a 36-year-old male RP patient, who carried a homozygous frameshift variant in CNGA1 gene (c.265delC; p.L89Ffs*4). The cell line can serve as a patient-derived disease model for exploring the pathogenesis and drug development of CNGA1-RP.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Células-Tronco Pluripotentes Induzidas Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Células-Tronco Pluripotentes Induzidas Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article