|
| Status |
Public on May 18, 2019 |
| Title |
Copy number variation data from iPS cells with PTCHD1-AS deletions |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
|
| Summary |
iPS cell lines were generated from a male with ASD (proband or prb) and his unaffected mother (control or ctrl). Both individuals carry X-linked 167kb microdeletions that disrupt both PTCHD1 and PTCHD1-AS. We found that cells PTCHD1/PTCHD1-AS-null cells tended to have abnormal karyotypes. Copy number variation analyses were performed to examine genomic stability in control and proband iPS cell lines.
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| |
|
| Overall design |
Genomic DNA from fibroblasts and from two iPS cell lines from each individual were hybridized to the Affymetrix CytoScanHD SNP array
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| |
|
| Contributor(s) |
Ross PJ, Deneault E |
| Citation(s) |
31540669 |
| Submission date |
Jun 07, 2016 |
| Last update date |
Sep 22, 2019 |
| Contact name |
James Ellis |
| E-mail(s) |
jellis@sickkids.ca
|
| Organization name |
The Hospital for Sick Children
|
| Department |
Developmental & Stem Cell Biology
|
| Street address |
686 Bay St
|
| City |
Toronto |
| State/province |
ON |
| ZIP/Postal code |
M5G 0A4 |
| Country |
Canada |
| |
|
| Platforms (1) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
|
| Samples (6)
|
| GSM2192904 |
fibroblasts from unaffected ctrl female |
| GSM2192905 |
iPS cells from unaffected control female, line 2.6 |
| GSM2192906 |
iPS cells from unaffected control female, line 2.14 |
| GSM2192907 |
fibroblasts from male proband with ASD |
| GSM2192908 |
iPS cells from male proband with ASD, line 2.22 |
| GSM2192909 |
iPS cells from male proband with ASD, line 2.27 |
|
| Relations |
| BioProject |
PRJNA324716 |
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