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

Abstract

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.