An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy
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Updated: Jan 13, 2026

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells
Published on: December 9, 2022
Min Lin1, Jia Luo1, Miao-Miao Liu1
1Department of Ophthalmology, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Abstract:
Familial exudative vitreoretinopathy (FEVR) is an inherited disease of retinal vascular development, and mutations in the LRP5 gene are associated with this disease. In this study, we generated a new induced pluripotent stem cell (iPSC) line, SJTUXHi003-A, from a patient with a novel copy number variation (CNV), exons 19-21 deletion in LRP5. This iPSC line exhibited a normal male karyotype with positive pluripotency markers, and could differentiate into three germ layers in vitro, providing a valuable model for studying the pathological mechanism of FEVR in vitro.
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