|
| Status |
Public on Jun 21, 2018 |
| Title |
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Edited mendelian disease SNP rs199643834 responsible for Birt-Hogg-Dubé Syndrome into 293T cells using CRISPR/Cas9
|
| |
|
| Overall design |
Human 293T cells were edited using CRISPR/Cas9 and a homologus template containing the desired SNP. Monoclonal lines were generated and genotyped.
|
| |
|
| Contributor(s) |
Castel SE, Lappalainen T |
| Citation(s) |
30127527 |
| Submission date |
Jun 20, 2018 |
| Last update date |
Nov 05, 2018 |
| Contact name |
Stephane Emile Castel |
| E-mail(s) |
scastel@nygenome.org
|
| Organization name |
New York Genome Center
|
| Lab |
Lappalainen
|
| Street address |
101 Avenue of the Americas
|
| City |
New York |
| State/province |
NY |
| ZIP/Postal code |
10013 |
| Country |
USA |
| |
|
| Platforms (1) |
| GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
| Samples (13)
|
|
| Relations |
| BioProject |
PRJNA476937 |
| SRA |
SRP150991 |
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