Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene

被引：0
|
作者：
Gao, Chunlai [1 ,2 ]
Yang, Xiaomeng [1 ,2 ]
Yang, Yanan [1 ,2 ]
Liu, Ning [1 ,2 ]
Li, Yue [1 ,2 ]
Liu, Yi [1 ,2 ,3 ]
Gai, Zhongtao [1 ,2 ,3 ]
机构：
[1] Shandong Univ, Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China
[2] Jinan Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China
[3] Jinan Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China
来源：
STEM CELL RESEARCH | 2024年 / 76卷
关键词：
D O I：
10.1016/j.scr.2024.103356
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Subcortical band heterotopia (SHB) is a rare severe brain developmental malformation caused by deficient neuronal migration during the development of cerebral cortex. Here, a human induced pluripotent stem cell (iPSCs) line was established from a 4-year-1-month-old girl with SHB carrying a heterozygous mutation (c.568A > G, p.K190E) in DCX. The generated iPSC line showed the ability to differentiate into three lineages in vitro and was confirmed by pluripotency markers and the original gene mutation.
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页数：4
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