Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene

Xinyue Zhu; Lu Tang; Ting Zhang; Xinyue Bai; Jieqiong Chen; Lei Zhang; Yuanyuan Gong; Mei Jiang; Xiaodong Sun

doi:10.1016/j.scr.2024.103423

Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene

Stem Cell Res. 2024 Jun:77:103423. doi: 10.1016/j.scr.2024.103423. Epub 2024 Apr 17.

Authors

Xinyue Zhu¹, Lu Tang², Ting Zhang¹, Xinyue Bai¹, Jieqiong Chen¹, Lei Zhang², Yuanyuan Gong³, Mei Jiang⁴, Xiaodong Sun¹

Affiliations

¹ Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shanghai, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Diseases, Shanghai, China.
² Innostellar Biotherapeutics Co., Ltd., Shanghai, China.
³ Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shanghai, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Diseases, Shanghai, China. Electronic address: gyydr@126.com.
⁴ Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; National Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Clinical Research Center for Eye Diseases, Shanghai, China; Shanghai Key Clinical Specialty, Shanghai, China; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Diseases, Shanghai, China. Electronic address: mei.jiang@shgh.cn.

PMID: 38640637
DOI: 10.1016/j.scr.2024.103423

Abstract

Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with macular dystrophy and severe visual loss. Mutations in TIMP3 gene has been related to SFD with mechanisms unclear. We have successfully reprogrammed the peripheral blood mononuclear cells (PBMCs) from an SFD patient carrying c.484G>A mutation in TIMP3 gene to induced pluripotent stem cells (iPSCs) and characterized their pluripotency and genetic stability. This line may serve as a useful tool to explore the role of TIMP3 in SFD pathogenesis.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Female
Humans
Induced Pluripotent Stem Cells* / metabolism
Macular Degeneration / genetics
Macular Degeneration / pathology
Male
Mutation*
Tissue Inhibitor of Metalloproteinase-3* / genetics

Substances

TIMP3 protein, human
Tissue Inhibitor of Metalloproteinase-3

Supplementary concepts

Fundus Dystrophy, Pseudoinflammatory, Of Sorsby