从一名患有USH2A基因复合杂合突变的患者身上生成两条诱导多能干细胞系。
Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene.
作者信息
McLenachan Samuel, Wong Elaine Y M, Zhang Xiao, Leith Fiona, Moon Sang Yoon, Zhang Dan, Chen Shang-Chih, Thompson Jennifer A, McLaren Terri, Lamey Tina, De Roach John N, Atlas Marcus D, Dilley Rodney J, 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.
Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Centre for Neurological & Neuromuscular Diseases, The University of Western Australia, Crawley, Western Australia, Australia.
出版信息
Stem Cell Res. 2019 Apr;36:101420. doi: 10.1016/j.scr.2019.101420. Epub 2019 Mar 16.
The human iPSC lines LEIi010-A and LEIi010-B were generated from the dermal fibroblasts of a patient with Usher syndrome using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. These iPSC lines carry compound heterozygous mutations (c.949C > A and c.1256G > T) in USH2A. LEIi010-A and LEIi010-B expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages.
人诱导多能干细胞系LEIi010 - A和LEIi010 - B是使用含有OCT4、SOX2、KLF4、L - MYC、LIN28、mir302/367微小RNA和p53的短发夹RNA的游离质粒，从一名患有Usher综合征患者的皮肤成纤维细胞中产生的。这些诱导多能干细胞系在USH2A基因中携带复合杂合突变（c.949C＞A和c.1256G＞T）。LEIi010 - A和LEIi010 - B表达多能干细胞标志物，具有正常的核型，并且可以分化为内胚层、中胚层和外胚层谱系。
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