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| Status |
Public on Jan 27, 2015 |
| Title |
Transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
CHOPS syndrome is caused by germline gain-of-function mutations of AFF4. Cornelia de Lange syndrome is caused by germline mutations of cohesin loading factors or cohesin complex genes such as NIPBL, SMC1A, SMC3 and HDAC8. There are many overlapping clinical features exist between CHOPS syndrome and Cornelia de Lange syndrome. To identified commonly dysregulated genes in CHOPS syndrome and Cornelia de Lange syndrome, we perfomred side-by-side transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome.
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| Overall design |
In this transcriptome analysis, patient derived skin fibroblasts from two CHOPS syndrome probands, two Cornelia de Lange syndrome probands, and four age-gender-ethnicity matched healthy control subjects were used.The samples used for Human Gene 2.0 arrays are two CHOPs syndrome samples (CDL160 and CDL444), two Cornelia de Lange syndrome samples (CdL006: 7 year-old Caucasian female NIPBL 742_743delCT ;L248TfsX6 and CdL015: 10 year-old Caucasian male NIPBL 2969delG;G990DfsX2), and four age gender matched control samples (GM01652, GM01864, GM02036 and GM03348).
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| Contributor(s) |
Izumi K, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Deardorff MA, Clark D, Kaur M, Krantz ID |
| Citation(s) |
25730767 |
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| Submission date |
Dec 10, 2014 |
| Last update date |
Apr 28, 2015 |
| Contact name |
IAN D. KRANTZ |
| E-mail(s) |
ian2@mail.med.upenn.edu
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| Phone |
215-590-2828
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| Organization name |
The Children's Hospital of Philadelphia
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| Department |
Division of Human and Molecular Genetics
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| Lab |
1012G, ARC
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| Street address |
34th and Civic Blvd.
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| City |
Philadelphia |
| State/province |
PA |
| ZIP/Postal code |
19104 |
| Country |
USA |
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| Platforms (1) |
| GPL17889 |
[HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [HuGene20stv1_Hs_ENTREZG_16.0.0] |
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| Samples (16)
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| GSM1563208 |
CdLS sample 15, replicate 2 |
| GSM1563209 |
CdLS sample 160, replicate 1 |
| GSM1563210 |
CdLS sample 160, replicate 2 |
| GSM1563211 |
CdLS sample 444, replicate 1 |
| GSM1563212 |
CdLS sample 444, replicate 2 |
| GSM1563213 |
Control sample 1652, replicate 2 |
| GSM1563214 |
Control sample 1864, replicate 1 |
| GSM1563215 |
Control sample 1864, replicate 2 |
| GSM1563216 |
Control sample 2036, replicate 1 |
| GSM1563217 |
Control sample 2036, replicate 2 |
| GSM1563218 |
Control sample 2036, replicate 3 |
| GSM1563219 |
Control sample 3348, replicate 1 |
| GSM1563220 |
Control sample 3348, replicate 2 |
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| Relations |
| BioProject |
PRJNA269921 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE64034_RAW.tar |
149.9 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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