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

doi:10.1016/j.scr.2020.101713

Case Reports

. 2020 Mar:43:101713.

doi: 10.1016/j.scr.2020.101713. Epub 2020 Jan 17.

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

Kathrin Haake¹, Tim Wüstefeld², Sylvia Merkert³, Doreen Lüttge², Gudrun Göhring⁴, Bernd Auber⁴, Ulrich Baumann⁵, Nico Lachmann⁶

Affiliations

¹ 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. Electronic address: haake.kathrin@mh-hannover.de.
² 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.
³ 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.
⁴ Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
⁵ Department of Paediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, 30625 Hannover, Germany.
⁶ 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. Electronic address: lachmann.nico@mh-hannover.de.

PMID: 32000109
DOI: 10.1016/j.scr.2020.101713

Free article

Case Reports

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

Kathrin Haake et al. Stem Cell Res. 2020 Mar.

Free article

. 2020 Mar:43:101713.

doi: 10.1016/j.scr.2020.101713. Epub 2020 Jan 17.

Authors

Kathrin Haake¹, Tim Wüstefeld², Sylvia Merkert³, Doreen Lüttge², Gudrun Göhring⁴, Bernd Auber⁴, Ulrich Baumann⁵, Nico Lachmann⁶

Affiliations

¹ 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. Electronic address: haake.kathrin@mh-hannover.de.
² 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.
³ 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.
⁴ Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
⁵ Department of Paediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, 30625 Hannover, Germany.
⁶ 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. Electronic address: lachmann.nico@mh-hannover.de.

PMID: 32000109
DOI: 10.1016/j.scr.2020.101713

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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Conflict of interest statement

Declaration of competing Interest None.

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

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

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