Kamand Morad, Ilieva Mirolyuba, Louise Forsberg Sheena, Thomassen Mads, Meyer Morten, Fex Svenningsen Åsa, Maria Michel Tanja
Department of Clinical Research, Department of Psychiatry, University of Southern Denmark, Odense, Denmark; Institute of Molecular Medicine, Department of Neurobiology Research, University of Southern Denmark, Odense, Denmark; Psychiatry in the Region of Southern Denmark, Odense University Hospital, Denmark.
Department of Clinical Research, Department of Psychiatry, University of Southern Denmark, Odense, Denmark; Psychiatry in the Region of Southern Denmark, Odense University Hospital, Denmark.
Stem Cell Res. 2020 Oct;48:101974. doi: 10.1016/j.scr.2020.101974. Epub 2020 Sep 1.
Autism spectrum disorder is a heterogenous neurodevelopmental disorder. The patients experience challenges in social interaction and communication skills as well as restricted and/or repetitive behaviors. To understand the molecular mechanisms underlying developmental brain disorders, patient-derived cellular models represent a useful tool. We have generated a human induced pluripotent stem cell line (SDUKIi003-A) from skin fibroblasts derived from a 20-year old male patient diagnosed with Asperger syndrome ("FYNEN-cohort" of Southern Denmark). The reprogramming of the fibroblasts was accomplished using integration-free episomal plasmids. Characterization validated the expression of pluripotency markers, differentiation into the three germ layers, and absence of chromosomal abnormalities.
自闭症谱系障碍是一种异质性神经发育障碍。患者在社交互动和沟通技能方面面临挑战，同时还存在受限和/或重复行为。为了了解发育性脑疾病的分子机制，源自患者的细胞模型是一种有用的工具。我们从一名20岁男性患者（来自丹麦南部的“FYNEN队列”，被诊断患有阿斯伯格综合征）的皮肤成纤维细胞中生成了一种人类诱导多能干细胞系（SDUKIi003-A）。成纤维细胞的重编程是使用无整合附加体质粒完成的。特性分析验证了多能性标志物的表达、向三个胚层的分化以及不存在染色体异常。
