Erkilic Nejla, Sanjurjo-Soriano Carla, Diakatou Michalitsa, Manes Gaël, Dubois Gregor, Hamel Christian P, Meunier Isabelle, Kalatzis Vasiliki
Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France.
Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France; National Reference Centre for Inherited Sensory Disorders, CHU, Montpellier, France.
Stem Cell Res. 2019 Jul;38:101478. doi: 10.1016/j.scr.2019.101478. Epub 2019 Jun 7.
We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a 53 year-old patient with autosomal dominant cone-rod dystrophy (CRD) caused by a missense mutation, c.121C > T, in the CRX gene. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming system and the human OSKM transcription factor cocktail. The generated iPSCs contained the congenital mutation in exon 3 of CRX and were pluripotent and genetically stable. This iPSC line will be an important tool for retinal differentiation studies to better understand the CRD phenotype caused by the mutant p.Arg41Trp CRX protein.
我们利用一名53岁常染色体显性遗传视锥-视杆细胞营养不良（CRD）患者的真皮成纤维细胞，生成了一条诱导多能干细胞（iPSC）系。该患者的CRX基因发生错义突变c.121C>T，导致疾病发生。我们使用非整合型仙台病毒重编程系统和人类OSKM转录因子混合物对患者的成纤维细胞进行重编程。所生成的诱导多能干细胞在CRX基因外显子3中含有先天性突变，具有多能性且基因稳定。这条诱导多能干细胞系将成为视网膜分化研究的重要工具，有助于更好地理解由突变型p.Arg41Trp CRX蛋白引起的CRD表型。
