Generation of an induced pluripotent stem cell line (SYSUSCi001-A) from a congenital cataract patient carrying heterozygous mutations in BFSP1 and RHO.
作者信息
Chen Fangyuan, Wang Tao, Yang Yuanting, Huang Ziqing, Dong Yuying, Zhang Rijia, Chen Jian, Zhou Qing
机构信息
The Department of Ophthalmology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China.
Center for Stem Cell Biology and Tissue Engineering, Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, Guangdong, China; Department of Biochemistry, Zhongshan Medical School, Sun Yat-Sen University, Guangzhou, Guangdong, China.
出版信息
Stem Cell Res. 2022 Mar;59:102644. doi: 10.1016/j.scr.2021.102644. Epub 2021 Dec 28.
The human induced pluripotent stem cell (hiPSC) line was generated from peripheral blood mononuclear cells (PBMCs) isolated from a 1-year-old boy who suffering from congenital cataract (CC), carrying heterozygous mutations in BFSP1 and RHO. PBMCs from this patient were reprogrammed into hiPSCs using non-integrative Sendai viral vectors expressing OCT4, SOX2, KLF4 and C-MYC. CC-hiPSCs had normal karyotype and showed pluripotency both in vitro and in vivo. The CC-hiPSCs would supply an important cell model for studying the pathogenesis of CC.
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