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