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

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 heter...

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Autores principales:	Jingying Wu, Wotu Tian, Feixia Zhan, Xinghua Luan, Li Cao
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/13ca0794fd194519ba8ede0f2c4b76c0
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spelling	oai:doaj.org-article:13ca0794fd194519ba8ede0f2c4b76c02021-11-26T04:26:00ZGeneration of an human induced pluripotent stem cell JTUi007-A from a patient with CSF1R-related leukoencephalopathy carrying heterozygous p.Ile794Thr mutation in CSF1R gene1873-506110.1016/j.scr.2021.102593https://doaj.org/article/13ca0794fd194519ba8ede0f2c4b76c02021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1873506121004402https://doaj.org/toc/1873-5061CSF1R-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.Jingying WuWotu TianFeixia ZhanXinghua LuanLi CaoElsevierarticleBiology (General)QH301-705.5ENStem Cell Research, Vol 57, Iss , Pp 102593- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Jingying Wu Wotu Tian Feixia Zhan Xinghua Luan Li Cao 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
description	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.
format	article
author	Jingying Wu Wotu Tian Feixia Zhan Xinghua Luan Li Cao
author_facet	Jingying Wu Wotu Tian Feixia Zhan Xinghua Luan Li Cao
author_sort	Jingying Wu
title	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
title_short	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
title_full	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
title_fullStr	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
title_full_unstemmed	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
title_sort	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
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/13ca0794fd194519ba8ede0f2c4b76c0
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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

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