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

Publication date: Available online 17 January 2020Source: Stem Cell ResearchAuthor(s): Kathrin Haake, Tim Wüstefeld, Sylvia Merkert, Doreen Lüttge, Gudrun Göhring, Bernd Auber, Ulrich Baumann, Nico LachmannAbstractChronic 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 IL17 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research