Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene

被引：0
|
作者：
Bai, Xinyue [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Chen, Jieqiong [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Zhao, Xiaohuan [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Zhu, Xinyue [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Ding, Xiaoyan [8 ]
Zhang, Ting [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Jiang, Mei [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Sun, Xiaodong [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
机构：
[1] Shanghai Jiao Tong Univ, Shanghai Gen Hosp, Sch Med, Dept Ophthalmol, Shanghai, Peoples R China
[2] Natl Clin Res Ctr Eye Dis, Shanghai, Peoples R China
[3] Shanghai Clin Res Ctr Eye Dis, Shanghai, Peoples R China
[4] Shanghai Key Clin Specialty, Shanghai, Peoples R China
[5] Shanghai Key Lab Ocular Fundus Dis, Shanghai, Peoples R China
[6] Shanghai Engn Ctr Visual Sci & Photomed, Shanghai, Peoples R China
[7] Shanghai Engn Ctr Precise Diag & Treatment Eye Dis, Shanghai, Peoples R China
[8] Chinese Acad Sci, CAS Ctr Excellence Mol Cell Sci, Stem Cell Core Facil, Shanghai, Peoples R China
来源：
STEM CELL RESEARCH | 2024年 / 77卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2024.103390
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinopathy resulting in irreversible loss of vision. Mutations in RAX2 gene has been related to RP with mechanisms unclear. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a RP patient carrying c.77C > T mutation in RAX2 gene. This cell line was induced by integration-free episomal vectors and validated for pluripotency and differentiation capacity, which may serve as a model to study the role of RAX2 in RP pathogenesis.
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页数：4
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