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Series GSE158650 Query DataSets for GSE158650
Status Public on Mar 30, 2022
Title mRNA Sequencing of CMT2A, CMT1A patients and Normal human fibroblasts
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary We performed RNA sequencing on the 3 CMT2A-causing MFN2 mutations patient cell lines and 3 normal control lines, all cultured in galactose, we found striking transcriptional signature for CMT2A was present. And the CMT2A fibroblast transcriptional signature was >90% different from that of primary fibroblasts from a patient with CMT1 with a duplication mutation within the PMP22 gene.
 
Overall design Comparison transcritional signature among CMT2A, CMT1A patients and Normal human fibroblasts
 
Contributor(s) Dorn II GW, Dang X
Citation(s) 35326504
Submission date Sep 28, 2020
Last update date Mar 30, 2022
Contact name Xiawei Dang
E-mail(s) x.dang@wustl.edu
Organization name Washington University in St. Louis
Department Internal Medicine
Lab Dorn Lab
Street address 660 S Euclid Ave.
City St. Louis
State/province MO
ZIP/Postal code 63110
Country USA
 
Platforms (1)
GPL24676 Illumina NovaSeq 6000 (Homo sapiens)
Samples (6)
GSM4804959 Normal1
GSM4804960 Normal2
GSM4804961 Normal3
Relations
BioProject PRJNA666131
SRA SRP285610

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
GSE158650_CMT1A_CPM.txt.gz 96.3 Kb (ftp)(http) TXT
GSE158650_CMT2A_CPM.txt.gz 118.7 Kb (ftp)(http) TXT
GSE158650_Normal_CPM.txt.gz 119.8 Kb (ftp)(http) TXT
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Raw data are available in SRA
Processed data are available on Series record

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