从一名因 SNRNP200 复合杂合突变导致的隐性遗传性视网膜疾病患者中生成两个诱导多能干细胞系。
Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200.
机构信息
Lions Eye Institute, Nedlands, Western Australia, Australia.
Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.
出版信息
Stem Cell Res. 2021 Mar;51:102154. doi: 10.1016/j.scr.2020.102154. Epub 2021 Jan 5.
The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]). Dermal fibroblasts were transfected with episomal plasmids carrying transgenes encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi015-A and LEIi015-B expressed iPSC markers, were free from genomic alterations and demonstrated trilineage differentiation potential.
人诱导多能干细胞（iPSC）系 LEIi015-A 和 LEIi015-B 源自一名遗传性视网膜疾病患者，该疾病由 SNRNP200 基因的复合杂合突变引起（c.[1792C>T]；[3341T>C]）。真皮成纤维细胞用携带编码 OCT4、SOX2、KLF4、L-MYC、LIN28、miR302/367 微小 RNA 和 shRNA 针对 P53 的外显子质粒进行转染。克隆的 iPSC 系 LEIi015-A 和 LEIi015-B 表达 iPSC 标志物，无基因组改变，并显示三系分化潜能。
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