|
Status |
Public on Aug 08, 2023 |
Title |
PERU3020 |
Sample type |
genomic |
|
|
Source name |
Blood
|
Organism |
Homo sapiens |
Characteristics |
sample type: Patient gender: Female age: 2 mutation type: Homozygous mutation: p.Thr72Cysfs*2
|
Extracted molecule |
genomic DNA |
Extraction protocol |
Standard Illumina Protocol
|
Label |
CGL2 patient PERU family 3
|
Label protocol |
Standard Illumina Protocol
|
|
|
Hybridization protocol |
bisulfite converted DNA was amplified, fragmented and hybridised to IIllumina Infinium EPIC Human Methylation Beadchip using standard Illumina protocol
|
Scan protocol |
Arrays were imaged using BeadArray Reader using standard recommended Illumina scanner setting
|
Data processing |
Standard Illumina Protocol
|
|
|
Submission date |
Sep 27, 2022 |
Last update date |
Aug 08, 2023 |
Contact name |
Nady el Hajj |
E-mail(s) |
nelhajj@hbku.edu.qa
|
Organization name |
Hamad Bin Khalifa university
|
Street address |
Education City
|
City |
Doha |
ZIP/Postal code |
34110 |
Country |
Qatar |
|
|
Platform ID |
GPL21145 |
Series (1) |
GSE214297 |
Accelerated Epigenetic Aging and DNA Methylation Alterations in Berardinelli-Seip Congenital Lipodystrophy |
|