|
| Status |
Public on Jan 30, 2014 |
| Title |
Proband_affected |
| Sample type |
genomic |
| |
|
| Source name |
HH2A whole blood 1
|
| Organism |
Homo sapiens |
| Characteristics |
tissue: blood
relationship: Proband affected
disease state: hemochromatosis type 2A
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was extracted from whole blood using the QIAgen DNA Blood Midi Kit. DNA quality and quantity were assessed using a Nanodrop Spectophotometer and Agilent BioAnalyzer.
|
| Label |
Biotin
|
| Label protocol |
According to standard manufacturer protocol (Affymetrix).
|
| |
|
| Hybridization protocol |
According to standard manufacturer protocol (Affymetrix).
|
| Scan protocol |
The arrays were washed using Affymetrix fluidics stations, and scanned using the Gene Chip Scanner 3000 7G.
|
| Description |
Hybridized to Affymetrix SNP 6.0
|
| Data processing |
Affymetrix GeneChip Command Console software was used for image processing and CEL files were processed by Affymetrix GTC using the BRLMM-P-Plus algorithm and regional GC correction configuration for Copy Number/LOH analysis. The HapMap270 file supplied by Affymetrix was used as the reference.
|
| |
|
| Submission date |
Aug 29, 2013 |
| Last update date |
Jan 30, 2014 |
| Contact name |
Viktor Stranecky |
| Organization name |
Charles University
|
| Department |
1st Faculty of Medicine
|
| Lab |
Institute of inherited metabolic disorders
|
| Street address |
Ke Karlovu 2
|
| City |
Prague |
| ZIP/Postal code |
128 00 |
| Country |
Czech Republic |
| |
|
| Platform ID |
GPL6801 |
| Series (1) |
| GSE50441 |
Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis |
|
