|
| Status |
Public on Mar 08, 2017 |
| Title |
PPCD Proband 4 |
| Sample type |
genomic |
| |
|
| Channel 1 |
| Source name |
blood leukocytes, affected
|
| Organism |
Homo sapiens |
| Characteristics |
disease state: PPCD
genotype/variation: non-PPCD3
cell type: blood leukocytes
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was isolated using the FlexiGene DNA kit as per manufacterer's recommendations.
|
| Label |
cy5
|
| Label protocol |
As per manufacturer's instructions. Protocol: Agilent Oligonucleotide Array-Based CGH for Genomic DNA Analysis - Enzymatic Labeling for Blood Cells or Tissues - Version 6,3, October 2010.
|
| |
|
| Channel 2 |
| Source name |
Human reference DNA (Agilent 5190-4371)
|
| Organism |
Homo sapiens |
| Characteristics |
gender: female
sample type: reference
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was isolated using the FlexiGene DNA kit as per manufacterer's recommendations.
|
| Label |
cy3
|
| Label protocol |
As per manufacturer's instructions. Protocol: Agilent Oligonucleotide Array-Based CGH for Genomic DNA Analysis - Enzymatic Labeling for Blood Cells or Tissues - Version 6,3, October 2010.
|
| |
|
| |
| Hybridization protocol |
As per manufacturer's instructions. Protocol: Agilent Oligonucleotide Array-Based CGH for Genomic DNA Analysis - Enzymatic Labeling for Blood Cells or Tissues - Version 6,3, October 2010.
|
| Scan protocol |
Agilent Feature Extraction V 11.5.1
|
| Data processing |
Agilent CytoGenomics 3.0.1.1 software. Default Analysis Method - CGH+SNP v2. Normalization: GC correction and Diploid Peak Centralization.
|
| |
|
| Submission date |
Jul 28, 2016 |
| Last update date |
Mar 08, 2017 |
| Contact name |
Anthony J. Aldave |
| E-mail(s) |
Aldave@jsei.ucla.edu
|
| Organization name |
Stein Eye Institute, UCLA
|
| Department |
Ophthalmology
|
| Lab |
Cornea Genetics Laboratory
|
| Street address |
200 Stein Plaza DSERC 3-143
|
| City |
Los Angeles |
| State/province |
CA |
| ZIP/Postal code |
90095 |
| Country |
USA |
| |
|
| Platform ID |
GPL22253 |
| Series (1) |
| GSE84940 |
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1 |
|
