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Series GSE124500 Query DataSets for GSE124500
Status Public on Dec 31, 2018
Title Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebrovascular disease caused by a NOTCH3 mutation. However, the underlying cellular and molecular mechanisms remain unidentified. Here, we generated non-integrative induced pluripotent stem cells (iPSCs) from fibroblasts from a CADASIL patient harboring a heterozygous NOTCH3 mutation (c.3226C>T, p.R1076C). Vascular smooth muscle cells (VSMCs) differentiated from CADASIL-specific iPSCs showed transcriptional changes and disease-associated cellular dysfunction, including activation of the NF-kB signaling pathway, cytoskeleton disorganization, and excessive cell proliferation. In comparison, these abnormalities were not observed in vascular endothelial cells (VECs) derived from the patient’s iPSCs. Importantly, the abnormal upregulation of NF-kB target genes in CADASIL VSMCs was diminished by a NOTCH pathway inhibitor, providing a potential therapeutic strategy for CADASIL. Overall, using this iPSC-based disease model, our study identified clues for studying the disease mechanisms of CADASIL and developing treatment strategies for this disease.
 
Overall design Transcriptomic analyses of WT and Cadasil specific vascular cells.
 
Contributor(s) Liu G
Citation(s) 30778920
Submission date Dec 30, 2018
Last update date Apr 01, 2019
Contact name Zunpeng Liu
E-mail(s) zunpengliu@163.com
Phone +86 15510715055
Organization name State Key Laboratory of Stem Cell and Reproductive Biology
Department Institute of Zoology, Chinese Academy of Sciences
Lab Jing Qu
Street address Beichen West Road
City Beijing
ZIP/Postal code 100101
Country China
 
Platforms (1)
GPL20795 HiSeq X Ten (Homo sapiens)
Samples (12)
GSM3535313 EC_WT1_rep1
GSM3535314 EC_WT1_rep2
GSM3535315 EC_WT2_rep1
Relations
BioProject PRJNA512232
SRA SRP174896

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

Supplementary file Size Download File type/resource
GSE124500_RAW.tar 2.3 Mb (http)(custom) TAR (of TSV, TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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