|
| Status |
Public on Dec 01, 2023 |
| Title |
81417_HF_P2 [mutant] |
| Sample type |
SRA |
| |
|
| Source name |
Primary fibroblast cells
|
| Organism |
Homo sapiens |
| Characteristics |
cell type: Patient derived primary fibroblasts
tissue: Skin
genotype: Mutant
|
| Treatment protocol |
No treatment
|
| Growth protocol |
We generated dermal primary fibroblast cells by getting biopsies from patient and age matched control. Obtained cells were grown in DMEM Medium supplemented with fetal bovine serum, L-glutamine and antibiotics (Penicillin/Streptomycin).
|
| Extracted molecule |
total RNA |
| Extraction protocol |
RNA libraries were prepared for sequencing using standard Illumina protocols
|
| |
|
| Library strategy |
RNA-Seq |
| Library source |
transcriptomic |
| Library selection |
cDNA |
| Instrument model |
Illumina HiSeq 2000 |
| |
|
| Data processing |
Illumina Casava software used for basecalling
RNA-Seq data were processed through the QuickNGS analysis pipeline version 1.2.7, based on Ensembl 87
Sequenced reads mapped to Homo sapiens
Fragment Per Kilobase of exon per Million (FPKM) were calculated using a Cufflinks
Genome_build: Ensembl version 87 ( Homo sapiens )
Supplementary_files_format_and_content: Text file include FPKM values for each Sample
|
| |
|
| Submission date |
Dec 10, 2021 |
| Last update date |
Dec 01, 2023 |
| Contact name |
Muhammad Sajid Hussain |
| E-mail(s) |
mhussain@uni-koeln.de, mhussain@daad-alumni.de
|
| Phone |
+4922147896808
|
| Organization name |
University of Cologne
|
| Department |
Cologne Center for Genomics
|
| Street address |
Weyertal 115b
|
| City |
Cologne |
| ZIP/Postal code |
50931 |
| Country |
Germany |
| |
|
| Platform ID |
GPL11154 |
| Series (1) |
| GSE190621 |
Biallelic variant in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations through altered WNT signalling |
|
| Relations |
| BioSample |
SAMN23845414 |
| SRA |
SRX13374546 |
