从一名C5orf42基因存在复合杂合突变的Joubert综合征患者中生成诱导多能干细胞（iPSC）系。
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.
作者信息
Ali Eltahir, Ferraro Rosalba Monica, Lanzi Gaetana, Masneri Stefania, Piovani Giovanna, Mazzoldi Elena Laura, Serpieri Valentina, Valente Enza Maria, Giordano Lucio, Giliani Silvia Clara
机构信息
Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy.
Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy.
出版信息
Stem Cell Res. 2020 Dec;49:102007. doi: 10.1016/j.scr.2020.102007. Epub 2020 Sep 22.
We have generated new disease-specific induced pluripotent stem cell (iPSC) lines from skin fibroblasts obtained from a female patient with Joubert syndrome (JS) caused by compound heterozygous mutations in C5orf42 gene. The generated iPSCs offer an unprecedented opportunity to obtain iPSC-derived neurons to investigate the pathogenesis of JS in vitro and to develop therapeutic strategies.
我们从一名患有由C5orf42基因复合杂合突变引起的乔伯综合征（JS）的女性患者的皮肤成纤维细胞中，生成了新的疾病特异性诱导多能干细胞（iPSC）系。所生成的诱导多能干细胞为获取诱导多能干细胞来源的神经元提供了前所未有的机会，以便在体外研究乔伯综合征的发病机制并制定治疗策略。
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