从一名患有由USH2A基因双等位基因c.949C>A和c.1256G>T突变引起的Usher综合征患者中生成三条诱导多能干细胞系。
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene.
作者信息
Zaw Khine, Wong Elaine Y M, Zhang Xiao, Zhang Dan, Chen Shang-Chih, Thompson Jennifer A, Lamey Tina, McLaren Terri, De Roach John N, Wilton Steve D, Fletcher Sue, Mitrpant Chalermchai, Atlas Marcus D, Chen Fred K, McLenachan Samuel
机构信息
Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
出版信息
Stem Cell Res. 2020 Dec 16;50:102129. doi: 10.1016/j.scr.2020.102129.
Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.
USH2A基因突变是导致尤塞综合征和常染色体隐性非综合征性视网膜色素变性的最常见原因。在此，我们描述了从一名携带USH2A基因双等位基因c.949C>A和c.1256G>T变异的患者的真皮成纤维细胞中生成三种诱导多能干细胞系的过程，使用了表达OCT4、SOX2、KLF4、MYCL、LIN28、mir302/367以及靶向TP53的shRNA的附加体重编程质粒。所有三个细胞系均表达多能性标志物，核型未改变，具有三系分化潜能，且重编程附加体和支原体检测均为阴性。
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