Calado Sofia M, Garcia-Delgado Ana B, De la Cerda Berta, Ponte-Zuñiga Beatriz, Bhattacharya Shom S, Díaz-Corrales Francisco J
Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre-CABIMER (Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide), Seville, Spain.
Macarena University Hospital, Department of Ophthalmology, Seville, Spain.
Stem Cell Res. 2018 Dec;33:251-254. doi: 10.1016/j.scr.2018.11.002. Epub 2018 Nov 16.
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a heterozygous double mutation in EYS gene was generated by non-integrative reprogramming technology, using hOCT3/4, hSOX2, hc-MYC and hKLF4 reprogramming factors. Pluripotency and differentiation capacity were assessed by immunocytochemistry and RT-PCR. This iPSC line can be further differentiated towards the affected cells to understand the pathophysiology of the disease and test new therapeutic strategies.
视网膜色素变性（RP）是一种遗传性视网膜退行性疾病。EYS基因的突变与常染色体隐性RP有关。通过非整合重编程技术，利用hOCT3/4、hSOX2、hc-MYC和hKLF4重编程因子，从一名携带EYS基因杂合双突变患者的外周血单个核细胞中获得了人诱导多能干细胞系CABi002-A。通过免疫细胞化学和逆转录聚合酶链反应评估多能性和分化能力。该诱导多能干细胞系可进一步分化为受影响的细胞，以了解疾病的病理生理学并测试新的治疗策略。
