从一名由RP1突变引起的视网膜色素变性患者身上生成诱导多能干细胞系。
Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation.
作者信息
Zhang Xiao, Moon Sang Yoon, Zhang Dan, Chen Shang-Chih, Lamey Tina, Thompson Jennifer A, McLaren Terri, De Roach John N, McLenachan Samuel, Chen Fred K
机构信息
Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
出版信息
Stem Cell Res. 2019 May;37:101452. doi: 10.1016/j.scr.2019.101452. Epub 2019 Apr 25.
We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.
我们报告了诱导多能干细胞系LEIi005-B的产生，该细胞系来自一名患有色素性视网膜炎的患者，其病因是RP1基因中的显性无义突变（c.2098G>T p.E700X）。使用含有OCT4、SOX2、KLF4、L-MYC、LIN28、mir302/367微小RNA和p53的短发夹RNA的附加体质粒对真皮成纤维细胞进行重编程，以建立克隆诱导多能干细胞系LEIi005-B。LEIi005-B表达多能干细胞标志物，具有正常的核型，并分化为内胚层、中胚层和外胚层。
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