在一名莱伯先天性黑蒙症（LCA）患者中产生携带复合杂合RDH12突变的两条人诱导多能干细胞（hiPSC）系。
Generation of two hiPSC lines carrying compound heterozygous RDH12 mutations in a LCA patient.
作者信息
Guo Fuying, Xu Ping, Zheng Dandan, Zhong Xiufeng
机构信息
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou 510060, China.
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou 510060, China.
出版信息
Stem Cell Res. 2024 Dec;81:103525. doi: 10.1016/j.scr.2024.103525. Epub 2024 Aug 8.
Leber's congenital amaurosis (LCA) is a complex inherited retinal dystrophy characterized by severe vision loss and even blindness early in life, caused by more than 38 genes. Variations in RDH12 were found to be responsible for LCA. We successfully generated two induced pluripotent stem cell lines from a patient diagnosed with LCA carrying the RDH12 compound heterozygous mutations c.524C>T (p.Ser175Leu) and c.806C>G (p.Ala269Gly). Both iPSC lines displayed differentiation potential in vitro, exhibited normal karyotype and expressed pluripotency markers. These iPSC lines will act as a tool for studying the pathogenesis and treatment of RDH12-related LCA.
莱伯先天性黑蒙（LCA）是一种复杂的遗传性视网膜营养不良，其特征是在生命早期出现严重视力丧失甚至失明，由超过38个基因引起。研究发现，RDH12基因的变异是导致LCA的原因。我们成功地从一名被诊断患有LCA且携带RDH12复合杂合突变c.524C>T（p.Ser175Leu）和c.806C>G（p.Ala269Gly）的患者身上生成了两条诱导多能干细胞系。这两条诱导多能干细胞系在体外均表现出分化潜能，具有正常的核型并表达多能性标志物。这些诱导多能干细胞系将作为研究RDH12相关LCA发病机制和治疗方法的工具。
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