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

Abstract

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.