Terray Angélique, Slembrouck Amélie, Nanteau Céline, Chondroyer Christel, Zeitz Christina, Sahel José-Alain, Audo Isabelle, Reichman Sacha, Goureau Olivier
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.
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。
