建立三株源自杰特综合征的诱导多能干细胞（iPSC）系，均携带 CC2D2A 基因的复合杂合突变。
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.
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. 2021 Jul;54:102430. doi: 10.1016/j.scr.2021.102430. Epub 2021 Jun 16.
We have developed Joubert syndrome (JS)-derived induced pluripotent stem cell (iPSC) lines from dermal fibroblasts biopsied from a female patient harbouring novel compound heterozygous mutations in CC2D2A gene. The newly established iPSC lines provide tremendous promises for development of JS-derived neuronal cell lines to uncover the molecular and cellular mechanisms underlying the pathogenesis of JS and to develop therapeutic interventions for treatment of JS.
我们已从一名女性患者的皮肤成纤维细胞中分离出脑-眼-肾综合征（JS）诱导多能干细胞（iPSC）系，该患者携带 CC2D2A 基因中的新型复合杂合突变。新建立的 iPSC 系为开发 JS 来源的神经元细胞系提供了巨大的潜力，以揭示 JS 发病机制的分子和细胞机制，并开发治疗 JS 的治疗干预措施。
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