Generation of an human induced pluripotent stem cell JTUi007-A from a patient with CSF1R-related leukoencephalopathy carrying heterozygous p.Ile794Thr mutation in CSF1R gene
Generation of an human induced pluripotent stem cell JTUi007-A from a patient with CSF1R-related leukoencephalopathy carrying heterozygous p.Ile794Thr mutation in CSF1R gene
复制标题
从携带 CSF1R 基因 p.Ile794Thr 杂合突变的 CSF1R 相关白质脑病患者中产生人诱导多能干细胞 JTUi007-A
DOI：
10.1016/j.scr.2021.102593
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发表时间：
2021
影响因子：
1.2
通讯作者：
Li Cao
中科院分区：
文献类型：
--
作者：
Jing-Ying Wu;Wo-Tu Tian;Fei-Xia Zhan;Xing-Hua Luan;Li Cao
CSF1R-related leukoencephalopathy is an adult-onset monogenic microgliopathy causing leukoencephalopathy with high mortality and disabiliity. Here, an human induced pluripotent stem cell (hiPSC) line was generated from peripheral blood mononuclear cells of a 46-year-old female patient carrying heterozygous c.2381 T>C/p.Ile794Thr mutation with episomal plasmids encoding hOCT4, hSOX2, hNANOG, hLIN28, hKLF4 and hMYC. With normal karyotype, pluripotent markers expression and the capability to differentiate into the three germ layers in vivo, the hiPSC line is a promising tool for further study the pathogenic mechanism and potential therapeutic targets of this disease.
