从一名因AIPL1基因突变导致莱伯先天性黑蒙的患者身上生成人诱导多能干细胞系。
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
作者信息
Lukovic Dunja, Artero Castro Ana, León Marian, Del Buey Furió Verónica, Cortón Marta, Ayuso Carmen, Erceg Slaven
机构信息
National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, Valencia 46012, Spain.
National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, Valencia 46012, Spain.
出版信息
Stem Cell Res. 2018 Dec;33:151-155. doi: 10.1016/j.scr.2018.10.012. Epub 2018 Oct 5.
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated by Sendai virus reprogramming. The generated hiPSC line was free of Sendai virus genes, had stable karyotype, carried the homozygous mutation, was immunopositive to pluripotency markers and able to generate all three germ layers upon embryoid body formation. Resource table.
通过仙台病毒重编程，从患有纯合突变c.265T>C、p.Cys89Arg的芳基烃受体相互作用蛋白样1（AIPL1）基因的莱伯先天性黑蒙患者的皮肤成纤维细胞中获得了人诱导多能干细胞（hiPSC）系。所产生的hiPSC系不含仙台病毒基因，具有稳定的核型，携带纯合突变，对多能性标志物呈免疫阳性，并且在形成胚状体时能够产生所有三个胚层。资源表。
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