从一名被诊断患有阿斯伯格综合征的20岁男性患者身上获得诱导多能干细胞（SDUKIi003-A）。
Derivation of induced pluripotent stem cells (SDUKIi003-A) from a 20-year-old male patient diagnosed with Asperger syndrome.
作者信息
Kamand Morad, Ilieva Mirolyuba, Louise Forsberg Sheena, Thomassen Mads, Meyer Morten, Fex Svenningsen Åsa, Maria Michel Tanja
机构信息
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.
出版信息
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。
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