Generation of induced pluripotent stem cell (iPSC) line ZOCi003-A derived from peripheral blood mononuclear cells of X-linked juvenile retinoschisis harboring a hemizygous mutation in RS1 gene

Yafen Liu; Xinyu Liu; Mingwei Huang; Linyan Zhang; Jinglin Lu; Zhaotian Zhang; Xiaoyan Ding

doi:10.1016/j.scr.2021.102595

Generation of induced pluripotent stem cell (iPSC) line ZOCi003-A derived from peripheral blood mononuclear cells of X-linked juvenile retinoschisis harboring a hemizygous mutation in RS1 gene

Stem Cell Res. 2021 Dec:57:102595. doi: 10.1016/j.scr.2021.102595. Epub 2021 Nov 9.

Authors

Yafen Liu¹, Xinyu Liu¹, Mingwei Huang², Linyan Zhang¹, Jinglin Lu¹, Zhaotian Zhang³, Xiaoyan Ding⁴

Affiliations

¹ State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
² Aegicare (Sheznzhen) Technology Co., Ltd., Shenzhen, China.
³ State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China. Electronic address: zhangzht9@mail.sysu.edu.cn.
⁴ State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China. Electronic address: dingxiaoyan@gzzoc.com.

PMID: 34798543
DOI: 10.1016/j.scr.2021.102595

Abstract

X-linked juvenile retinoschisis (XLRS) is an inherited disease characterized by splitting within inner retinal layers and impaired vision, which begins in childhood and occurs mostly in males. Peripheral blood mononuclear cells (PBMCs) were isolated from a seven-year-old boy carrying a hemizygous mutation in RS1 gene, and were reprogrammed into human induced pluripotent stem cells (iPSCs) using non-integrative episomal vectors. The cell line, ZOCi003-A, had normal karyotype, expressed pluripotency markers, and could differentiate into three germ layers in vivo. This IPSC line may be used for studying the molecular basis of XLRS and selecting potential therapeutic targets and drugs.