See
Genome Information for Homo sapiens
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.
| Accession | PRJNA476937; GEO: GSE116061 |
| Data Type | Transcriptome or Gene expression |
| Scope | Multiisolate |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Publications | Castel SE et al., "Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.", Nat Genet, 2018 Sep;50(9):1327-1334 |
| Submission | Registration date: 20-Jun-2018
Lappalainen, New York Genome Center |
| Relevance | Medical |
Project Data:
| Resource Name | Number
of Links |
|---|
| Sequence data |
| SRA Experiments | 13 |
| Publications |
| PubMed | 1 |
| PMC | 1 |
| Other datasets |
| BioSample | 13 |
| GEO DataSets | 1 |