来自一名慢性黏膜皮肤念珠菌病患者的人类信号转导和转录激活因子1（STAT1）功能获得性诱导多能干细胞系。
Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis.
作者信息
Haake Kathrin, Wüstefeld Tim, Merkert Sylvia, Lüttge Doreen, Göhring Gudrun, Auber Bernd, Baumann Ulrich, Lachmann Nico
机构信息
JRG Translational Hematology of Congenital Diseases, Institute of Experimental Hematology, Hannover Medical School, 30625 Hannover, Germany; REBIRTH-Cluster of Excellence, Hannover Medical School, 30625 Hannover, Germany.
JRG Translational Hematology of Congenital Diseases, Institute of Experimental Hematology, Hannover Medical School, 30625 Hannover, Germany; REBIRTH-Cluster of Excellence, Hannover Medical School, 30625 Hannover, Germany.
出版信息
Stem Cell Res. 2020 Mar;43:101713. doi: 10.1016/j.scr.2020.101713. Epub 2020 Jan 17.
Chronic mucocutaneous candidiasis (CMC) is a disease that is characterized by susceptibility to chronic or recurrent infections with Candida spp. due to mutations affecting mainly the IL-17 signaling of T-Cells. The most common etiologies of CMC are gain-of-function (GOF) mutations in the STAT1 gene. In this paper we report the generation of a hiPSC line from a patient suffering from CMC due to a heterozygous GOF STAT1 p.R274Q mutation which can be used for disease modeling purposes.
慢性黏膜皮肤念珠菌病（CMC）是一种由于主要影响T细胞IL-17信号传导的突变而导致易受念珠菌属慢性或反复感染的疾病。CMC最常见的病因是STAT1基因的功能获得性（GOF）突变。在本文中，我们报告了从一名因杂合性GOF STAT1 p.R274Q突变而患有CMC的患者身上生成的一条人诱导多能干细胞（hiPSC）系，该细胞系可用于疾病建模。
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