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Items: 3

1.

Defective Cohesin in CdLS Mediates Gene Expression with Characteristics of Transcription Factor and Insulator Activity

(Submitter supplied) The Cohesin apparatus has a canonical role in sister chromatid cohesion. Heterozygous mutations in Nipped B-like (NIPBL), SMC1A, and SMC3 have been found in 60% of probands with Cornelia de Lange Syndrome (CdLS), a dominant multi-system genetic disorder with variable expression. We have performed a genome-wide transcription assessment as well as cohesin binding analysis using human lymphoblastoid cell lines (LCLs) from probands with CdLS and controls. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL570
39 Samples
Download data: CEL
Series
Accession:
GSE12408
ID:
200012408
2.

[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 June 06, 2012: annotation table updated with netaffx build 32 June 23, 2016: annotation table updated with netaffx build 35 Protocol: see manufacturer's web site Complete coverage of the Human Genome U133 Set plus 6,500 additional genes for analysis of over 47,000 transcripts All probe sets represented on the GeneChip Human Genome U133 Set are identically replicated on the GeneChip Human Genome U133 Plus 2.0 Array. more...
Organism:
Homo sapiens
602 DataSets
5679 Series
61 Related Platforms
175821 Samples
Download data
Platform
Accession:
GPL570
ID:
100000570
3.

CdLS patient PT6

Organism:
Homo sapiens
Source name:
Lymphoblastoid cell line
Platform:
GPL570
Series:
GSE12408
Download data: CEL
Sample
Accession:
GSM311335
ID:
300311335
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