Abstract：
Retinitis pigmentosa (RP) is the most common inherited retinal diseases, characterized by photoreceptor cell death and retinal pigment epithelial atrophy. Mutations in cyclic nucleotide gated channel subunit alpha 1 (CNGA1) have been reported to cause retinitis pigmentosa. Here, we established the human induced pluripotent stem cell line (iPSC) SJTUGHi002-A, generated from peripheral blood mononuclear cells of a 36-year-old male RP patient, who carried a homozygous frameshift variant in CNGA1 gene (c.265delC; p.L89Ffs*4). The cell line can serve as a patient-derived disease model for exploring the pathogenesis and drug development of CNGA1-RP.
摘要：
视网膜色素变性（RP）是最常见的遗传性视网膜疾病，以感光细胞死亡和视网膜色素上皮萎缩为特征。据报道，环核苷酸门控通道亚基α1（CNGA1）的突变会导致色素性视网膜炎。这里,我们建立了人诱导多能干细胞系（iPSC）SJTUGhi002-A，由一名36岁男性RP患者的外周血单核细胞产生，在CNGA1基因中携带纯合移码变体(c.265delC;p.L89Ffs*4)。该细胞系可作为探索CNGA1-RP的发病机制和药物开发的患者来源的疾病模型。
