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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
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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.
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Overall design |
Comparison transcritional signature among CMT2A, CMT1A patients and Normal human fibroblasts
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Contributor(s) |
Dorn II GW, Dang X |
Citation(s) |
35326504 |
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Submission date |
Sep 28, 2020 |
Last update date |
Mar 30, 2022 |
Contact name |
Xiawei Dang |
E-mail(s) |
x.dang@wustl.edu
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Organization name |
Washington University in St. Louis
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Department |
Internal Medicine
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Lab |
Dorn Lab
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Street address |
660 S Euclid Ave.
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City |
St. Louis |
State/province |
MO |
ZIP/Postal code |
63110 |
Country |
USA |
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Platforms (1) |
GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
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Samples (6)
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Relations |
BioProject |
PRJNA666131 |
SRA |
SRP285610 |