Article
Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).
Stem cell research - 1 Sept 2023
Gao Liuyan, Shi Xinglei, Su Guofa, Guo Yufan, Lou Yuting, Wang Ye, Miao Pu, Feng Jianhua
Abstract excerpt
Developmental epileptic encephalopathy-47 (DEE47) is a nervous system disease characterized by the onset of intractable seizures that appear the first days or weeks after birth. FGF12 is the disease-causing gene of DEE47 that encodes a small cytoplasm protein, which is a member of the fibroblast growth factor homologous factor (FGF) family. The FGF12-encoded protein interacts with the cytoplasmic tail of...
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