Huang Zhiqin, Zhang Dan, Chen Shang-Chih, Thompson Jennifer A, McLaren Terri, Lamey Tina, De Roach John N, McLenachan Samuel, Chen Fred K
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia.
Lions Eye Institute, Nedlands, Western Australia, Australia.
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。
