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  • Title: Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1.
    Author: Jiang Z, Sun W, Zhang Q, Wang P.
    Journal: Stem Cell Res; 2023 Aug; 70():103131. PubMed ID: 37269665.
    Abstract:
    Knobloch syndrome is an autosomal recessive disorder characterized by high myopia, retinal detachment, and occipital skull defects. Mutations in the COL18A1 gene have been identified to cause KNO1. Here, we successfully generated a human induced pluripotent stem cell (hiPSC) line from the peripheral blood mononuclear cells (PBMCs) of a KNO patient caused by COL18A1 biallelic pathogenic variants, and this iPSC model offers a precious disease model to study the pathological mechanism and possible treatment of KNO in vitro.
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