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  1. Article ; Online: Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis

    Chi-Hsien Peng / Kang-Chieh Huang / Huai-En Lu / Shih-Han Syu / Aliaksandr A. Yarmishyn / Jyh-Feng Lu / Waradee Buddhakosai / Tai-Chi Lin / Chih-Chien Hsu / De-Kuang Hwang / Chia-Ning Shen / Shih-Jen Chen / Shih-Hwa Chiou

    Stem Cell Research, Vol 29, Iss , Pp 152-

    2018  Volume 156

    Abstract: X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy manifested as splitting of anatomical layers of retina. In this report, we generated a patient-specific induced pluripotent stem cell (iPSC) line, TVGH-iPSC-013-05, from the ... ...

    Abstract X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy manifested as splitting of anatomical layers of retina. In this report, we generated a patient-specific induced pluripotent stem cell (iPSC) line, TVGH-iPSC-013-05, from the peripheral blood mononuclear cells of a male patient with XLRS by using the Sendai-virus delivery system. We believe that XLRS patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2018-05-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis

    Kang-Chieh Huang / Mong-Lien Wang / Shih-Jen Chen / Jean-Cheng Kuo / Won-Jing Wang / Phan Nguyen Nhi Nguyen / Karl J. Wahlin / Jyh-Feng Lu / Audrey A. Tran / Michael Shi / Yueh Chien / Aliaksandr A. Yarmishyn / Ping-Hsing Tsai / Tien-Chun Yang / Wann-Neng Jane / Chia-Ching Chang / Chi-Hsien Peng / Thorsten M. Schlaeger / Shih-Hwa Chiou

    Stem Cell Reports, Vol 13, Iss 5, Pp 906-

    2019  Volume 923

    Abstract: Summary: X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal ...

    Abstract Summary: X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal organoid in vitro differentiation system. This model recapitulates key features of XLRS including retinal splitting, defective retinoschisin production, outer-segment defects, abnormal paxillin turnover, and impaired ER-Golgi transportation. RS1 mutation also affects the development of photoreceptor sensory cilia and results in altered expression of other retinopathy-associated genes. CRISPR/Cas9 correction of the disease-associated C625T mutation normalizes the splitting phenotype, outer-segment defects, paxillin dynamics, ciliary marker expression, and transcriptome profiles. Likewise, mutating RS1 in control hiPSCs produces the disease-associated phenotypes. Finally, we show that the C625T mutation can be repaired precisely and efficiently using a base-editing approach. Taken together, our data establish 3D organoids as a valid disease model. : Chiou, Schlaeger, and colleagues use hiPSC-derived retinal organoids to model X-linked juvenile retinoschisis. They show that patient hiPSC-derived retinal organoids replicate key pathologies observed in patients, including retinal splitting and photoreceptor deficit. The observed abnormalities were normalized in organoids derived from isogenic CRISPR/Cas9 gene-corrected hiPSCs. This validated XLRS in vitro model could be used to test and optimize therapeutic approaches. Keywords: retinal degeneration, X-linked juvenile retinoschisis, retinal organoid, induced pluripotent stem cells, retinogenesis, CRISPR/Cas9 gene editing, RS1, retinoschisin
    Keywords Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Language English
    Publishing date 2019-11-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

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