Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene
Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene
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从 ASD 和 DD 患者中生成诱导多能干细胞系 (SDQLCHi008-A)，该患者在 chr7q11.22 处携带 830 kb 从头缺失，包括 AUTS2 基因的外显子 1
DOI：
10.1016/j.scr.2019.101557
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发表时间：
2019
影响因子：
1.2
通讯作者：
Gai Zhongtao
中科院分区：
文献类型：
--
作者：
Yang Xiaomeng;Zhou Tiancheng;Zhang Haiyan;Li Yue;Dong Rui;Liu Ning;Pan Guangjin;Liu Yi;Gai Zhongtao
An induced pluripotent stem cell (iPSC) line was generated from human urine-derived cells of a 4 year-old boy with autism spectrum disorder(ASD) and developmental delay (DD) carrying a 830 kb de novo deletion at chromosome 7q11.22 disrupting the first exon and promoter region ofAUTS2. The iPSC retained the original deletion ofAUTS2, and had a normal karyotype, express pluripotency markers and bear differentiation potential in vitro.
