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.
基金：
National Health & Medical Research Council, Australia(Centre of Research Excellence and Career Development Fellowships) [APP1116360, APP1142962]; Government of Western Australia (Department of Health, New Independent Researcher Infrastructure Support Award); Retina Australia (Australian Inherited Retinal Diseases Registry and DNA Bank)
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2018]版：
大类|2 区生物
小类|2 区生物工程与应用微生物3 区细胞与组织工程3 区细胞生物学
最新[2023]版：
大类|4 区医学
小类|4 区生物工程与应用微生物4 区细胞与组织工程4 区细胞生物学
第一作者：
第一作者机构：[1]Univ Western Australia, Ctr Ophthalmol & Visual Sci, Nedlands, WA, Australia
通讯作者：
通讯机构：[*1]Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia
推荐引用方式(GB/T 7714)：
Huang Zhiqin,Zhang Dan,Chen Shang-Chih,et al.Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations[J].STEM CELL RESEARCH.2019,40:101549.doi:10.1016/j.scr.2019.101549.
APA：
Huang, Zhiqin,Zhang, Dan,Chen, Shang-Chih,Thompson, Jennifer A.,McLaren, Terri...&Chen, Fred K..(2019).Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations.STEM CELL RESEARCH,40,
MLA：
Huang, Zhiqin,et al."Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations".STEM CELL RESEARCH 40.(2019)
