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巧以及受限和/或重复行为方面遇到挑战。为了了解发育性脑部疾病的分子机制，患者衍生的细胞模型代表了一种有用的工具。我们已经从皮肤成纤维细胞中产生了人类诱导的多能干细胞系（SDUKIi003-A），该皮肤成纤维细胞来自一名诊断为阿斯伯格综合征的20岁男性患者（南丹麦的“ FYNEN队列”）。成纤维细胞的重编程使用无整合游离型质粒完成。鉴定证实了多能性标记物的表达，分化为三个胚层以及没有染色体异常。