Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)

被引：0
|
作者：
Chen, Zilin [2 ,3 ,4 ]
Lv, Hui [2 ,3 ,4 ]
Yu, Juehua [2 ,3 ,4 ,5 ]
Fang, Shuanfeng [1 ]
Li, Fei [2 ,3 ,4 ]
机构：
[1] Zhengzhou Univ, Dept Child Hlth Care, Childrens Hosp, Zhengzhou, Peoples R China
[2] Shanghai Jiao Tong Univ, Dev & Behav Pediat Dept, Xinhua Hosp, Sch Med, Shanghai, Peoples R China
[3] Shanghai Jiao Tong Univ, Child Primary Care Dept, Brain & Behav Res Unit, Shanghai Inst Pediat Res,Xinhua Hosp,Sch Med, Shanghai, Peoples R China
[4] Shanghai Jiao Tong Univ, MOE Shanghai Key Lab Childrens Environm Hlth, Xinhua Hosp, Sch Med, Shanghai, Peoples R China
[5] Kunming Med Univ, Ctr Expt Studies & Res, Affiliated Hosp 1, Kunming 650032, Yunnan, Peoples R China
来源：
STEM CELL RESEARCH | 2022年 / 61卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2022.102756
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Mutations in the HDAC8 are considered to be a prominent cause of Cornelia de Lange syndrome 5, a leading cause of intellectual disability and social disability. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a 5-year-old girl diagnosed with autism spectrum disorder (ASD) who carries a heterozygous mutation in HDAC8 (c.1075C > T, p.Pro359Ser).
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页数：4
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