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

Autor: Fangyuan Chen, Tao Wang, Yuanting Yang, Ziqing Huang, Yuying Dong, Rijia Zhang, Jian Chen, Qing Zhou
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Stem Cell Research, Vol 59, Iss , Pp 102644- (2022)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2021.102644
Popis: 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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