Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Haake K, Wüstefeld T, Merkert S, Lüttge D, Göhring G, Auber B, Baumann U, Lachmann N
Journal Stem cell research
Publication Date 2020 Mar;43:101713
PubMed 32000109
DOI 10.1016/j.scr.2020.101713

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