从一名因NR2E3基因突变导致常染色体显性遗传性视网膜色素变性的患者身上生成诱导多能干细胞（iPSC）系。
Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
作者信息
Terray Angélique, Slembrouck Amélie, Nanteau Céline, Chondroyer Christel, Zeitz Christina, Sahel José-Alain, Audo Isabelle, Reichman Sacha, Goureau Olivier
机构信息
Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France.
Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France; Centre d'Investigation Clinique 1423, INSERM-Center Hospitalier National d'Ophtalmologie des Quinze-Vingts, 75012 Paris, France; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
出版信息
Stem Cell Res. 2017 Oct;24:1-4. doi: 10.1016/j.scr.2017.08.003. Epub 2017 Aug 5.
A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPSCs contained the expected c.166G>A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype. This cellular model will provide a powerful tool to study the pathogenesis of NR2E3-associated RP. Resource table.
从一名患有常染色体显性视网膜色素变性（RP）且NR2E3基因携带p.Gly56Arg突变的患者的成纤维细胞中生成了一条人诱导多能干细胞（iPSC）系。使用仙台病毒重编程系统，利用人OSKM转录因子生成了无转基因的iPSC。iPSC在NR2E3基因外显子2中含有预期的c.166G>A替换，表达预期的多能性标志物，在体内向三个胚层显示分化潜能，并且具有正常的核型。该细胞模型将为研究NR2E3相关RP的发病机制提供一个强大的工具。资源表。
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