|
| Status |
Public on Sep 13, 2013 |
| Title |
Genomic DNA from peripheral blood sample 7 |
| Sample type |
genomic |
| |
|
| Source name |
t(X;20)_Case 6B
|
| Organism |
Homo sapiens |
| Characteristics |
gender: female
tissue: peripheral blood
disease state: developmental delay, menstruated at 16 years
genotype: unbalanced X;20 translocation, 46,X,der(X)t(X;20)(q26.3;q13)
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was isolated from peripheral blood samples from each individual, extracted using a custom salt/ethanol precipitation method.
|
| Label |
Cy3/Cy5
|
| Label protocol |
Labelling was performed according to the manufacturer's protocol (Illumina, Inc., San Diego, CA).
|
| |
|
| Hybridization protocol |
Genome-wide measurement of CpG methylation levels was performed by hybridization of bisulfite-converted DNA from each case to Infinium HumanMethylation450 BeadChips, according to the manufacturer's protocol (Illumina, Inc., San Diego, CA).
|
| Scan protocol |
Scanning was performed using an Illumina HiScan Bead Array scanner according to the manufacturer's protocol (Illumina, Inc., San Diego, CA).
|
| Description |
Case 6B
Sibling of case 6A.
|
| Data processing |
Array data were processed using the Methylation Module of GenomeStudio v1.8 software using default parameters.
|
| |
|
| Submission date |
Sep 12, 2013 |
| Last update date |
Sep 13, 2013 |
| Contact name |
Andrew Sharp |
| Organization name |
Icahn School of Medicine at Mount Sinai
|
| Department |
Genetics and Genomics
|
| Street address |
Hess CSM Building Floor Floor 8 Room 116
|
| City |
New York |
| State/province |
NY |
| ZIP/Postal code |
10029 |
| Country |
USA |
| |
|
| Platform ID |
GPL13534 |
| Series (1) |
| GSE50837 |
DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation |
|
