诱导多能干细胞
生物
自闭症谱系障碍
胚芽层
突变
核型
干细胞
遗传学
基因
自闭症
染色体
胚胎干细胞
精神科
医学
作者
Yong Ji,Hui Lv,Zilin Chen,Juehua Yu,Shuanfeng Fang,Fēi Li
标识
DOI:10.1016/j.scr.2022.102676
摘要
Herein, we report the generation of a human induced pluripotent stem cell (iPSC) line from an autism spectrum disorder (ASD) patient carrying the c.1998delT mutation in GRIA2 gene. The generated iPSC line exhibits normal karyotype, pluripotency markers and was able to differentiate into three germ layers. The iPSC line retained the GRIA2 mutation (c.1998delT), which could provide a valuable resource for investing pathogenic mechanisms underlying ASD and facilitating the development of targeted medicine.
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