Claassen Johann N, Zhang Dan, Chen Shang-Chih, Moon Sang Yoon, Lamey Tina, Thompson Jennifer A, McLaren Terri, De Roach John N, McLenachan Samuel, Chen Fred K
Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia.
Lions Eye Institute, Nedlands, Western Australia, Australia.
Stem Cell Res. 2019 Jan;34:101352. doi: 10.1016/j.scr.2018.11.013. Epub 2018 Nov 30.
We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.
我们报告了从一名患有常染色体隐性遗传性斯特格黄斑营养不良症的患者中生成人诱导多能干细胞系LEIi007-A，该疾病由ABCA4基因的复合杂合突变（c.[5461-10 T > C];[4139C > T]）引起。使用含有OCT4、SOX2、KLF4、L-MYC、LIN28、p53的短发夹RNA和mir302/367微小RNA的附加体质粒对患者的皮肤成纤维细胞进行重编程，以建立克隆诱导多能干细胞系LEIl007-A。LEIl007-A表现出正常的多能干细胞集落形态，表达多能干细胞标志物，具有正常的核型，并分化为外胚层、中胚层和内胚层胚层谱系。
