Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.,Stem Cell Research

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Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-02-21 , DOI: 10.1016/j.scr.2020.101742
Yalan Zhou ₁ , Chengcheng Ding ₂ , Shutao Xia ₃ , Yutong Jing ₁ , Shengru Mao ₁ , Jian Liu ₂ , Juan Chen ₄ , Hon Fai Chan ₅ , Shibo Tang ₆ , Jiansu Chen ₇

Affiliation

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.
State Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Science, Hubei University, Wuhan, Hubei 430062, China.
Changsha Aier Eye Hospital, #388 Furong Middle Road, Changsha, Hunan 410015, China.
Institute for Tissue Engineering and Regenerative Medicine, The Chinese University of Hong Kong, Hong Kong, China; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.
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; CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai 200031, China.
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; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China.

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.

中文翻译：

从在CRB1基因中携带复合杂合突变的常染色体隐性色素性视网膜色素变性患者诱导多能干细胞系CSUASOi003-A的建立。

在色素性视网膜炎（RP）患者中发现了面包屑同源物1（CRB1）突变，导致严重的视网膜营养不良。源自患者的外周血单核细胞（PBMC）的人诱导多能干（iPS）细胞系CSUASOi003-A在CRB1基因中携带两个杂合突变（2249G> A p.G750D和c.2809G> A p.A937T）。由非集成重编程技术生成。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。RP患者特定的iPS细胞系为评估疾病的病理表型提供了强大的模型。

更新日期：2020-02-21

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