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Status |
Public on Feb 26, 2019 |
Title |
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, and hypomyelination with lower extremity spastic paraplegia, high frequency deafness, and tunnel vision. |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing
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Summary |
We have compared the transcriptome of cultured human fibroblasts from 2 patientes with a mutation in the ELOVL1 gene with the transcriptome of four healthy age-matched controls.
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Overall design |
RNA-Seq transcriptome analysis of 2 patients and of 4 controls with a sequencing depth of >60 Mio reads.
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Web link |
https://0-jmg-bmj-com.brum.beds.ac.uk/content/56/3/164
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Contributor(s) |
Schuelke M |
Citation(s) |
30487246 |
Submission date |
Jul 12, 2018 |
Last update date |
Feb 27, 2019 |
Contact name |
Markus Schuelke |
E-mail(s) |
markus.schuelke@charite.de
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Phone |
++49 30 4505 66112
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Organization name |
Charite
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Department |
Neuropediatrics
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Lab |
Schuelke lab
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Street address |
Augustenburger Platz 1
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City |
Berlin |
State/province |
Berlin |
ZIP/Postal code |
13353 |
Country |
Germany |
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Platforms (1) |
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Samples (6)
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Relations |
BioProject |
PRJNA480790 |
SRA |
SRP153156 |