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Series GSE38626 Query DataSets for GSE38626
Status Public on Jun 11, 2012
Title Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an IL-1-driven autoinflammatory disorder caused mainly by NLRP3 mutations. The pathogenesis of CINCA syndrome patients who carry NLRP3 mutations as somatic mosaicism has not been precisely described because of the difficulty in separating individual cells based on the presence or absence of the mutation. Here, we report the generation of NLRP3-mutant and non-mutant induced pluripotent stem cell (iPSC) lines from two CINCA syndrome patients with somatic mosaicism, and describe their differentiation into macrophages (iPS-MPs). We found that mutant cells are predominantly responsible for the pathogenesis in these mosaic patients because only mutant iPS-MPs showed the disease relevant phenotype of abnormal IL-1β secretion. We also confirmed that the existing anti-inflammatory compounds inhibited the abnormal IL-1β secretion, indicating that mutant iPS-MPs are applicable for drug screening for CINCA syndrome and other NLRP3-related inflammatory conditions. Our results illustrate that patient-derived iPSCs are useful for dissecting somatic mosaicism, and that NLRP3-mutant iPSCs can provide a valuable platform for drug discovery for multiple NLRP3-related disorders.
Overall design To characterize iPS and differentiated cells, RNA expression profiles were evaluated by microarray analysis.We analyzed iPC cells and macrophage from healthy volunteers and CINCA syndrome patients. Human ES cella and fibroblasts were used as control.
Contributor(s) Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, Niwa A, Nishikomori R, Kambe N, Hara H, Mitsuyama M, Morone N, Heuser JE, Yamamoto T, Watanabe A, Matsubara A, Ogawa S, Asaka I, Heike T, Yamanaka S, Nakahata T, Saito MK
Citation(s) 22723549
Submission date Jun 10, 2012
Last update date Nov 27, 2018
Contact name Akira Watanabe
Organization name CyberomiX Inc
Street address Rm504, Miyako Bldg, 233, Isa-cho, kamigyo-ku
City Kyoto
State/province Kyoto
ZIP/Postal code 602-8407
Country Japan
Platforms (1)
GPL13607 Agilent-028004 SurePrint G3 Human GE 8x60K Microarray (Feature Number version)
Samples (15)
GSM946311 CINCA_WildType-Macrophage-1
GSM946312 CINCA_WildType-Macrophage-2
GSM946313 CINCA_WildType-Macrophage-3
BioProject PRJNA168293

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE38626_RAW.tar 51.6 Mb (http)(custom) TAR (of TXT)
Processed data included within Sample table

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