| Literature DB >> 32000109 |
Kathrin Haake1, Tim Wüstefeld2, Sylvia Merkert3, Doreen Lüttge2, Gudrun Göhring4, Bernd Auber4, Ulrich Baumann5, Nico Lachmann6.
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.Entities:
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Year: 2020 PMID： 32000109 DOI： 10.1016/j.scr.2020.101713
Source DB: PubMed Journal: Stem Cell Res ISSN： 1873-5061 Impact factor: 2.020