|
| Status |
Public on Jun 15, 2017 |
| Title |
CHIP504LYF |
| Sample type |
genomic |
| |
|
| Source name |
CHIP504LYF
|
| Organism |
Homo sapiens |
| Characteristics |
disease state: Comorbid familial non-obstructive azoospermia (NOA) and congenital cataract (CC)
gender: male
tissue: peripheral blood
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was extracted from mononuclear cell preparations of leukemic blasts obtained from peripheral blood using the Qiagen DNA Blood Mini Kit. DNA quality and quantity was assessed using a Nanodrop Spectrophotometer, PicoGreen and agarose gel electrophoresis.
|
| Label |
Biotin
|
| Label protocol |
As per manufacturer (Affymetrix)
|
| |
|
| Hybridization protocol |
DNA was restriction digested, PCR amplified, fragmented, labeled and hybridized to each array according to the manufacturer's instructions.
|
| Scan protocol |
The Arrays were then washed using Affymetrix fluidics stations, and scanned using the Gene Chip Scanner 3000.
|
| Description |
Hybridized to cyto 750K
|
| Data processing |
The array image was acquired using Affymetrix GeneChip® Command Console (AGCC). Copy number values for individual SNPs were extracted and converted from CEL files into signal intensities using Affymetrix Chromosome Analysis Suite(CHAS 3.1) softwares.
Genotype Call (SNP call): AA, AB, BB, NC, and NoCall; 'Signal' = Summarized signal
|
| |
|
| Submission date |
Jun 14, 2017 |
| Last update date |
Jan 23, 2018 |
| Contact name |
xiong bo |
| Organization name |
xiangya
|
| Street address |
xiangya road
|
| City |
changsha |
| ZIP/Postal code |
410001 |
| Country |
China |
| |
|
| Platform ID |
GPL18637 |
| Series (1) |
| GSE100019 |
Loss-of-function mutations TDRD7 lead to a rare novel syndrome combining congenital cataract and non-obstructive azoospermia in humans |
|
