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An induced pluripotent stem cells line (SDQLCHi014-A) derived from urine cells of a patient with ASD and hyperactivity carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene.
Stem Cell Research ( IF 1.2 ) Pub Date : 2019-11-02 , DOI: 10.1016/j.scr.2019.101635
Xiaomeng Yang 1 , Yong Liu 2 , Tiancheng Zhou 3 , Haiyan Zhang 1 , Rui Dong 1 , Yue Li 1 , Ning Liu 1 , Yi Liu 1 , Zhongtao Gai 1
Affiliation  

Autism spectrum disorder (ASD) is a childhood-onset neurodevelopmental disorder challenged in social reciprocity and restrictive repetitive behaviors. Here, we generated an induced pluripotent stem cell (iPSC) line SDQLCHi014-A from a patient with ASD and hyperactivity, carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene by reprogramming urine cells with non-integrating vectors. SDQLCHi014-A have shown full pluripotency, differentiation capacity and genetic stability. This iPSC line provides a valuable resource to study the molecular mechanisms underlying ASD.



中文翻译:

诱导的多能干细胞系(SDQLCHi014-A)源自患有ASD的多动症患者,其多动症在chr3p26.1处涉及GRM7基因,携带303 kb从头删除。

自闭症谱系障碍(ASD)是在社交互惠和限制性重复行为中受到挑战的儿童期神经发育障碍。在这里,我们从患有ASD和机能亢进的患者中生成了诱导多能干细胞(iPSC)系SDQLCHi014-A,通过使用非整合型载体对尿液细胞进行重新编程,在涉及GRM7基因的chr3p26.1处携带了303 kb的从头缺失。SDQLCHi014-A已显示出充分的多能性,分化能力和遗传稳定性。该iPSC系为研究ASD的分子机制提供了宝贵的资源。

更新日期:2019-11-02
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