从一名在CRB1基因中携带复合杂合突变的常染色体隐性视网膜色素变性患者建立诱导多能干细胞系CSUASOi003-A。
Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.
作者信息
Zhou Yalan, Ding Chengcheng, Xia Shutao, Jing Yutong, Mao Shengru, Liu Jian, Chen Juan, Chan Hon Fai, Tang Shibo, Chen Jiansu
机构信息
Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
出版信息
Stem Cell Res. 2020 Apr;44:101742. doi: 10.1016/j.scr.2020.101742. Epub 2020 Feb 21.
Crumbs homologue 1 (CRB1) mutations have been found in retinitis pigmentosa (RP) patients lead to severe retinal dystrophies. The human induced pluripotent stem (iPS) cell line CSUASOi003-A derived from peripheral blood mononuclear cells (PBMCs) of a patient carrying two heterozygous mutations (2249G>A p.G750D and c.2809G>A p.A937T) in CRB1 gene was generated by non-integrative reprogramming technology. Pluripotency and differentiation capacity were assessed by immunocytochemistry and quantitative polymerase chain reaction (qPCR). The RP patient-specific iPS cell line provide a powerful model for evaluating the pathological phenotypes of the disease.
在视网膜色素变性（RP）患者中发现，面包屑同源物1（CRB1）突变会导致严重的视网膜营养不良。通过非整合重编程技术，从一名携带CRB1基因两个杂合突变（2249G>A p.G750D和c.2809G>A p.A937T）的患者外周血单个核细胞（PBMC）中获得了人诱导多能干细胞（iPS）系CSUASOi003-A。通过免疫细胞化学和定量聚合酶链反应（qPCR）评估多能性和分化能力。该RP患者特异性iPS细胞系为评估该疾病的病理表型提供了一个强大的模型。
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