Generation of three human iPSC lines from a retinitis pigmentosa family with SLC7A14 mutation

从具有 SLC7A14 突变的视网膜色素变性家族中产生三种人类 iPSC 系

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作者:Yan-Ping Li, Hui Liu, Zi-Bing Jin

Abstract

Mutation in SLC7A14 gene causes autosomal recessive retinitis pigmentosa (arRP). Here we describe the generation and characterization of human induced pluripotent stem cell (hiPSC) lines of RP patient with SLC7A14 mutation and his healthy parents. hiPSCs were derived from peripheral blood mononuclear cells (PBMCs) reprogrammed with integration-free plasmids including the reprogramming factors OCT3/4, SOX2, MYC and KLF4. All the established hiPSC lines showed normal karyotype, pluripotency and differentiation capacity.

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