用于视网膜疾病建模的患者特异性诱导多能干细胞衍生的视网膜色素上皮细胞
Patient-Specific iPSC-Derived RPE for Modeling of Retinal Diseases.
作者信息
Nguyen Huy V, Li Yao, Tsang Stephen H
机构信息
College of Physicians and Surgeons, Columbia University, 100 Haven Ave, Apt 14B, New York, NY 10032, USA.
Department of Ophthalmology, Columbia University, 635 W 165th St, New York, NY 10032, USA.
出版信息
J Clin Med. 2015 Mar 31;4(4):567-78. doi: 10.3390/jcm4040567.
Abstract
Inherited retinal diseases, such as age-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness in the developed world. Currently, treatments for these conditions are limited. Recently, considerable attention has been given to the possibility of using patient-specific induced pluripotent stem cells (iPSCs) as a treatment for these conditions. iPSCs reprogrammed from adult somatic cells offer the possibility of generating patient-specific cell lines in vitro. In this review, we will discuss the current literature pertaining to iPSC modeling of retinal disease, gene therapy of iPSC-derived retinal pigmented epithelium (RPE) cells, and retinal transplantation. We will focus on the use of iPSCs created from patients with inherited eye diseases for testing the efficacy of gene or drug-based therapies, elucidating previously unknown mechanisms and pathways of disease, and as a source of autologous cells for cell replacement.
摘要
遗传性视网膜疾病，如年龄相关性黄斑变性和视网膜色素变性，是发达国家失明的主要原因。目前，针对这些病症的治疗方法有限。最近，使用患者特异性诱导多能干细胞（iPSC）作为这些病症的治疗方法受到了广泛关注。从成人体细胞重编程而来的iPSC提供了在体外生成患者特异性细胞系的可能性。在这篇综述中，我们将讨论与视网膜疾病的iPSC建模、iPSC衍生的视网膜色素上皮（RPE）细胞的基因治疗以及视网膜移植相关的当前文献。我们将重点关注利用患有遗传性眼病的患者所产生的iPSC来测试基于基因或药物的疗法的疗效、阐明先前未知的疾病机制和途径，以及作为细胞替代的自体细胞来源。
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本文引用的文献
1
Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient.腺相关病毒 2/5 介导的基因治疗在脉络膜视网膜色素上皮患者诱导多能干细胞中的概念验证。
Mol Ther Methods Clin Dev. 2014 Apr 2;1:14011. doi: 10.1038/mtm.2014.11. eCollection 2014.
2
Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.针对患者特异性干细胞系的基因治疗以及患有膜卷曲相关蛋白缺陷的视网膜色素变性临床前模型。
Mol Ther. 2014 Sep;22(9):1688-97. doi: 10.1038/mt.2014.100. Epub 2014 Jun 4.
3
Duplication of TBK1 Stimulates Autophagy in iPSC-derived Retinal Cells from a Patient with Normal Tension Glaucoma.TBK1的复制刺激了来自正常眼压性青光眼患者的诱导多能干细胞衍生视网膜细胞中的自噬。
J Stem Cell Res Ther. 2014 Jan 25;3(5):161. doi: 10.4172/2157-7633.1000161.
4
Stem cells for investigation and treatment of inherited retinal disease.用于遗传性视网膜疾病研究与治疗的干细胞。
Hum Mol Genet. 2014 Sep 15;23(R1):R9-R16. doi: 10.1093/hmg/ddu124. Epub 2014 Mar 18.
5
Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application.旨在临床应用的人诱导多能干细胞衍生的视网膜色素上皮细胞片的特征描述。
Stem Cell Reports. 2014 Jan 23;2(2):205-18. doi: 10.1016/j.stemcr.2013.12.007. eCollection 2014 Feb 11.
6
Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines.利用患者特异性干细胞系对全基因组关联研究（GWAS）鉴定出的疾病风险等位基因进行验证。
Hum Mol Genet. 2014 Jul 1;23(13):3445-55. doi: 10.1093/hmg/ddu053. Epub 2014 Feb 4.
7
Direct comparison of autologous and allogeneic transplantation of iPSC-derived neural cells in the brain of a non-human primate.自体和异体 iPSC 源性神经细胞移植于非人类灵长类动物脑内的直接比较。
Stem Cell Reports. 2013 Sep 26;1(4):283-92. doi: 10.1016/j.stemcr.2013.08.007. eCollection 2013.
8
Using human induced pluripotent stem cells to treat retinal disease.利用人诱导多能干细胞治疗视网膜疾病。
Prog Retin Eye Res. 2013 Nov;37:163-81. doi: 10.1016/j.preteyeres.2013.09.002. Epub 2013 Oct 6.
9
Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity.RNA 引导的 CRISPR Cas9 的双缺口切割提高基因组编辑特异性。
Cell. 2013 Sep 12;154(6):1380-9. doi: 10.1016/j.cell.2013.08.021. Epub 2013 Aug 29.
10
Efficient genome engineering in human pluripotent stem cells using Cas9 from Neisseria meningitidis.利用脑膜炎奈瑟菌 Cas9 高效进行人类多能干细胞的基因组编辑。
Proc Natl Acad Sci U S A. 2013 Sep 24;110(39):15644-9. doi: 10.1073/pnas.1313587110. Epub 2013 Aug 12.
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