GSE66849[Accession] - GEO DataSets

Select item 2000668491.

Study the transcriptional level changes of induced pluripotent stem (iPS) cells from X-linked Dyskeratosis Congenita (DC) Patients

(Submitter supplied) Dyskeratosis congenita is a bone marrow failure syndrome characterized by the presence of short telomeres at presentation. The X-linked form is caused by mutations in the gene DKC1, encoding the protein dyskerin. Dyskerin is required for in the assembly and stability of telomerase and is also involved in ribosomal RNA (rRNA) processing where it converts specific uridines to pseudouridine. DC is thought to result from failure to maintain tissues, like blood, that are renewed by stem cell activity, suggesting induced pluripotent stem (iPS) cells from X-linked DC patients may provide information about the mechanisms involved. more...

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL5188
6 Samples

Download data: CEL, CHP

Series

Accession:: GSE66849

ID:: 200066849

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 1000051882.

[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version]

(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 #%create_date=Wed Mar 11 17:51:22 2009 PDT #%chip_type=HuEx-1_0-st-v2 #%lib_set_name=HuEx-1_0-st #%lib_set_version=v2 #%genome-species=Homo sapiens #%genome-version=hg18 #%genome-version-ucsc=hg18 #%genome-version-ncbi=36 #%genome-version-create_date=2006-03 #%netaffx-annotation-date=2009-03-16 #%netaffx-annotation-netaffx-build=28 Protocol: See manufacturer's web site