从一个患有视网膜色素变性且携带SLC7A14突变的家族中生成三个人诱导多能干细胞系。
Generation of three human iPSC lines from a retinitis pigmentosa family with SLC7A14 mutation.
作者信息
Li Yan-Ping, Liu Hui, Jin Zi-Bing
机构信息
Laboratory of Stem Cell & Retinal Regeneration, Institute of Stem Cell Research, Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.
Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing 100730, China.
出版信息
Stem Cell Res. 2020 Dec;49:102075. doi: 10.1016/j.scr.2020.102075. Epub 2020 Nov 3.
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.
SLC7A14基因突变导致常染色体隐性视网膜色素变性（arRP）。在此，我们描述了一名携带SLC7A14突变的视网膜色素变性患者及其健康父母的人诱导多能干细胞（hiPSC）系的生成与特性。hiPSC由外周血单个核细胞（PBMC）经无整合质粒重编程而来，这些质粒包含重编程因子OCT3/4、SOX2、MYC和KLF4。所有已建立的hiPSC系均显示出正常的核型、多能性和分化能力。
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