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

Stem cell research - 1 Aug 2023

Jiang Zixuan, Sun Wenmin, Zhang Qingjiong, Wang Panfeng

Abstract excerpt

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...

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Identifiers

PMID: 37269665
DOI: 10.1016/j.scr.2023.103131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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