|
| Status |
Public on Jan 22, 2017 |
| Title |
RNF125 mutated individual OGS21 |
| Sample type |
genomic |
| |
|
| Source name |
RNF125 mutated individual
|
| Organism |
Homo sapiens |
| Characteristics |
gender: Male
genotype: RNF125 mutation
health state: Diseased donor
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
DNA extracted by Phenol:Chloroform:Isoamylalcohol (Sigma)
|
| Label |
Cy3, Cy5
|
| Label protocol |
Standard Illumina labelling protocol
|
| |
|
| Hybridization protocol |
Bisulphite converted DNA was amplified, fragmented and hybridised to Illumina Infinium Human Methylation450 Beadchip using standard Illumina protocol
|
| Scan protocol |
Arrays were imaged using High Scan SQ using standard recommended Illumina scanner setting
|
| Data processing |
Genome Studio V2011.2
|
| |
|
| Submission date |
Jan 23, 2014 |
| Last update date |
Jan 22, 2017 |
| Contact name |
Manel Esteller |
| Organization name |
IDIBELL
|
| Department |
PEBC
|
| Lab |
Cancer Epigenetics
|
| Street address |
Hospital Duran i Reynals Av. Gran Via s/n km, 2.7
|
| City |
L'Hospitalet de Llobregat |
| State/province |
Barcelona |
| ZIP/Postal code |
08908 |
| Country |
Spain |
| |
|
| Platform ID |
GPL13534 |
| Series (1) |
| GSE54335 |
A new syndrome of overgrowth, macrocephaly, hypoglycemia, enlarged ventricles, mild, and moderate intellectual disability and recurrent inflammatory disease is due to mutations in RNF125 |
|
