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

被引：3

作者：

Jiang, Zixuan ^{[1
]}

Sun, Wenmin ^{[1
]}

Zhang, Qingjiong ^{[1
,3
]}

Wang, Panfeng ^{[1
,2
]}

机构：

[1] Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou, Peoples R China

[2] Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, Genet Eye Clin, Gene Diagnost Lab, 54 Xianlie Rd, Guangzhou 510060, Peoples R China

[3] Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, Pediat & Genet Eye Clin, 54 Xianlie Rd, Guangzhou 510060, Peoples R China

来源：

STEM CELL RESEARCH | 2023年 / 70卷

关键词：

COLLAGEN-XVIII; DOMAIN;

D O I：

10.1016/j.scr.2023.103131

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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.

引用

页数：5

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