Terray Angélique, Fort Victoire, Slembrouck Amélie, Nanteau Céline, Sahel José-Alain, Reichman Sacha, Audo Isabelle, 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 Dec;25:26-29. doi: 10.1016/j.scr.2017.10.007. Epub 2017 Oct 7.
A human iPS cell line was generated from fibroblasts of a phenotypically unaffected patient from a family with PRPF31-associated retinitis pigmentosa (RP). The transgene-free iPS cells were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPS cells contained the expected c.709-734dup substitution in exon 8 of PRPF31, 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 unusual pattern of inheritance of PRPF31-associated RP.
从一个患有PRPF31相关视网膜色素变性（RP）的家族中，一名表型未受影响的患者的成纤维细胞中产生了一种人诱导多能干细胞系。使用仙台病毒重编程系统，用人OSKM转录因子产生了无转基因的诱导多能干细胞。诱导多能干细胞在PRPF31的第8外显子中含有预期的c.709 - 734dup替代，表达预期的多能性标志物，在体内显示出向三个胚层的分化潜能，并且具有正常的核型。这种细胞模型将为研究PRPF31相关RP的异常遗传模式提供一个强大的工具。
