|
| Status |
Public on Jun 30, 2016 |
| Title |
PPCD Affected Individual 3 |
| Sample type |
genomic |
| |
|
| Channel 1 |
| Source name |
blood leukocytes, affected
|
| Organism |
Homo sapiens |
| Characteristics |
disease status: posterior polymorphous corneal dystrophy 1 (PPCD1)
cell type: blood leukocytes
gender: male
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was isolated using the FlexiGene DNA kit as per manufacturer'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 manufacturer'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.
|
| Description |
Affected 3
|
| Data processing |
Agilent CytoGenomics 3.0.1.1 software. Genome build hg19. Default Analysis Method - CGH+SNP v2. Normalization: GC correction and Diploid Peak Centralization.
|
| |
|
| Submission date |
Sep 01, 2015 |
| Last update date |
Jun 30, 2016 |
| 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 |
GPL20879 |
| Series (1) |
| GSE72617 |
Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus |
|
