Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy.
Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy.
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DOI：
10.1016/j.scr.2020.101785
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发表时间：
2020-04
影响因子：
1.2
通讯作者：
Huifang Zhao;Shuai Li;Lang He;Xiaobo B Han;Hua-Lin Huang;Feng Tang;Zuoxian Lin;Sihao Deng;Chao Tian;Rongqi Huang;Zhiyuan Li
中科院分区：
文献类型：
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作者：
Huifang Zhao;Shuai Li;Lang He;Xiaobo B Han;Hua-Lin Huang;Feng Tang;Zuoxian Lin;Sihao Deng;Chao Tian;Rongqi Huang;Zhiyuan Li
Epilepsy is a neurological disorder, characterized byrecurrent(two or more) epileptic seizures resulting from excessive and abnormal cortical neural activity.Fibroblasts were collected from a 10-year-old male with antecedent febrile seizures (PEFS+) and carrying a heterozygous A > G mutation of Nav1.1αsubunit gene. The induced USTCi001-A retained the mutation, expressed pluripotent markers, showed normal karyotype, and displayed in vitro differentiation potential toward cells of the three embryonic germ layers.
