从一名患有RCBTB1移码突变的孤立性遗传性视网膜营养不良患者中生成三个诱导多能干细胞系。
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations.
作者信息
Huang Zhiqin, Zhang Dan, Chen Shang-Chih, Thompson Jennifer A, McLaren Terri, Lamey Tina, De Roach John N, McLenachan Samuel, Chen Fred K
机构信息
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia.
Lions Eye Institute, Nedlands, Western Australia, Australia.
出版信息
Stem Cell Res. 2019 Oct;40:101549. doi: 10.1016/j.scr.2019.101549. Epub 2019 Aug 23.
Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.
RCBTB1基因的变异与遗传性视网膜疾病（IRD）有关。在此，我们从一名45岁患有IRD的女性患者身上生成了诱导多能干细胞（iPSC），该患者在RCBTB1基因中存在复合杂合突变。使用含有OCT4、SOX2、KLF4、MYCL、LIN28、TP53的短发夹RNA（shRNA）和mir302/367微小RNA的游离质粒对原代表皮成纤维细胞进行重编程。这些iPSC系为进一步研究RCBTB1基因突变在IRD中的病理生理作用提供了一个有用的模型。
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