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Series GSE155788 Query DataSets for GSE155788
Status Public on Nov 04, 2020
Title Mapping endothelial-cell diversity in cerebral cavernous malformations at single cell resolution
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage. Loss-of-function mutations to any of three genes results in CCM lesion formation; namely, CCM1, CCM2, and CCM3. Here, we report for the first time in-depth single-cell RNA sequencing, combined with spatial transcriptomics and immunohistochemistry, to comprehensively characterize subclasses of brain endothelial cells under both normal conditions and after deletion of Ccm3 in a mouse model of CCM. Integrated single-cell analysis identifies arterial endothelial cells as refractory to CCM transformation. Conversely, a subset of angiogenic venous capillary endothelial cells and respective resident endothelial progenitors is at the origin of CCM lesions. These data are relevant for the understanding of the plasticity of the brain vascular system and provide novel insights into the molecular basis of CCM disease at the single cell level.
 
Overall design Single cell RNA-seq of brain endothelial cells from Ccm3 ko and Ccm3 wt mice, in duplicate
 
Contributor(s) Orsenigo F, Conze LL, Jauhiainen S, Corada M, Lazzaroni F, Malinverno M, Sundell V, Cunha SI, Brännström J, Globish M, Maderna C, Lampugnani MG, Magnusson PU, Dejana E
Citation(s) 33138917
Submission date Aug 06, 2020
Last update date Nov 06, 2020
Contact name Elisabetta Dejana
E-mail(s) elisabetta.dejana@igp.uu.se
Organization name Uppsala University
Department Immunology, Genetics and Pathology
Street address Dag Hammarskjolds väg 20
City Uppsala
ZIP/Postal code 751 85
Country Sweden
 
Platforms (1)
GPL24247 Illumina NovaSeq 6000 (Mus musculus)
Samples (4)
GSM4712077 Endothelial cells - Ccm3 wt 1
GSM4712078 Endothelial cells - Ccm3 wt 2
GSM4712079 Endothelial cells - Ccm3 ko 1
Relations
BioProject PRJNA655629
SRA SRP276363

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Supplementary file Size Download File type/resource
GSE155788_RAW.tar 424.4 Mb (http)(custom) TAR (of MTX, TSV)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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