Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis
患有慢性粘膜皮肤念珠菌病的患者的人类 STAT1 功能获得性 iPSC 系
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作者:Kathrin Haake, Tim Wüstefeld, Sylvia Merkert, Doreen Lüttge, Gudrun Göhring, Bernd Auber, Ulrich Baumann, Nico Lachmann
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2020 | 起止号: | 2020 Mar:43:101713. |
| doi: | 10.1016/j.scr.2020.101713 | 种属: | Human |
| 研究方向: | 微生物学 | |
Abstract
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.
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