Journal
STEM CELL RESEARCH
Volume 43, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2020.101713
Keywords
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Funding
- Deutsche Forschungsgemeinschaft: Cluster of Excellence REBIRTH (Exc 62/3)
- Else Kroner-Fresenius-Stiftung (EKFS) [2015_92]
- Federal Ministry of Education and Research [01EK1602A]
- Hannover Biomedical Research School, REBIRTH PhD program Regenerative Sciences
- Hannover Biomedical Research School
- [LA3680/2-1]
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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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