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

患有慢性粘膜皮肤念珠菌病的患者的人类 STAT1 功能获得性 iPSC 系

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

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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