Jansch Charline, Günther Katharina, Waider Jonas, Ziegler Georg C, Forero Andrea, Kollert Sina, Svirin Evgeniy, Pühringer Dirk, Kwok Chee Keong, Ullmann Reinhard, Maierhofer Anna, Flunkert Julia, Haaf Thomas, Edenhofer Frank, Lesch Klaus-Peter
Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany.
Stem Cell and Regenerative Medicine Group, Institute of Anatomy and Cell Biology II, University of Würzburg, Würzburg, Germany.
Stem Cell Res. 2018 Apr;28:136-140. doi: 10.1016/j.scr.2018.02.005. Epub 2018 Feb 13.
Fibroblasts were isolated from a skin biopsy of a clinically diagnosed 51-year-old female attention-deficit/hyperactivity disorder (ADHD) patient carrying a duplication of SLC2A3, a gene encoding neuronal glucose transporter-3 (GLUT3). Patient fibroblasts were infected with Sendai virus, a single-stranded RNA virus, to generate transgene-free human induced pluripotent stem cells (iPSCs). SLC2A3-D2-iPSCs showed expression of pluripotency-associated markers, were able to differentiate into cells of the three germ layers in vitro and had a normal female karyotype. This in vitro cellular model can be used to study the role of risk genes in the pathogenesis of ADHD, in a patient-specific manner.
从一名临床诊断为注意力缺陷多动障碍（ADHD）的51岁女性患者的皮肤活检中分离出成纤维细胞，该患者携带SLC2A3基因的重复，SLC2A3是一种编码神经元葡萄糖转运蛋白-3（GLUT3）的基因。用仙台病毒（一种单链RNA病毒）感染患者的成纤维细胞，以产生无转基因的人诱导多能干细胞（iPSC）。SLC2A3-D2-iPSC显示多能性相关标志物的表达，能够在体外分化为三个胚层的细胞，并且具有正常的女性核型。这种体外细胞模型可用于以患者特异性方式研究风险基因在ADHD发病机制中的作用。
