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

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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chen F, Wang T, Yang Y, Huang Z, Dong Y, Zhang R, Chen J, Zhou Q
Journal Stem cell research
Publication Date 2021 Dec 28;59:102644
PubMed 34995847
DOI 10.1016/j.scr.2021.102644

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