Generation of an induced pluripotent stem cell line (SYSUSCi001-A) from a congenital cataract patient carrying heterozygous mutations in BFSP1 and RHO

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...

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Bibliographic Details
Published in:Stem cell research 2022-03, Vol.59, p.102644-102644, Article 102644
Main Authors: Chen, Fangyuan, Wang, Tao, Yang, Yuanting, Huang, Ziqing, Dong, Yuying, Zhang, Rijia, Chen, Jian, Zhou, Qing
Format: Article
Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2021.102644