Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1


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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Jiang Z, Sun W, Zhang Q, Wang P
Journal Stem cell research
Publication Date 2023 Aug;70:103131
PubMed 37269665
DOI 10.1016/j.scr.2023.103131

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