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

Kathrin Haake; Tim Wüstefeld; Sylvia Merkert; Doreen Lüttge; Gudrun Göhring; Bernd Auber; Ulrich Baumann; Nico Lachmann

Stem Cell Research (Mar 2020)

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

Kathrin Haake,
Tim Wüstefeld,
Sylvia Merkert,
Doreen Lüttge,
Gudrun Göhring,
Bernd Auber,
Ulrich Baumann,
Nico Lachmann

Affiliations

Kathrin Haake: 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; Corresponding authors.
Tim Wüstefeld: 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
Sylvia Merkert: REBIRTH-Cluster of Excellence, Hannover Medical School, 30625 Hannover, Germany; Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery (HTTG), Hannover Medical School, 30625, Hannover, Germany
Doreen Lüttge: 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
Gudrun Göhring: Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany
Bernd Auber: Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany
Ulrich Baumann: Department of Paediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, 30625 Hannover, Germany
Nico Lachmann: 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; Corresponding authors.

Journal volume & issue: Vol. 43

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal