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Series GSE21899 Query DataSets for GSE21899
Status Public on May 20, 2010
Title Global Gene Expression Profiles in Cultured Skin Fibroblasts Derived from Patients with Gaucher Disease
Organism Homo sapiens
Experiment type Expression profiling by array
Summary This work presents the discovery of genes that are dysregulated in patients with Type I and Type III Gaucher Disease. It provides insight into the unique pathogenesis of these phenotypes, improved diagnostic accuracy and potential novel therapies for these patients.
Overall design Control and patient fibroblast cultures were established from full-thickness, skin biopsies obtained under a protocol approved by the IRB of the National Institute of Neurological Disorders and Stroke. Patient cultures were homoallelic for either the N370S mutation (non-neuronopathic, Gaucher Disease Type I, n=5), the L444P mutation (neuronopathic, Gaucher Disease Type III, n=5), or Wild-Type (Control, n=4).
Contributor(s) Johnson KR, Brady RO
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Submission date May 19, 2010
Last update date Dec 06, 2018
Contact name Kory R Johnson
Phone 301-402-1956
Organization name NINDS/NIH
Department DIR IT & Bioinformatics
Lab Bioinformatics Section
Street address 10/3B01, 9000 Rockville Pike
City Bethesda
State/province MD
ZIP/Postal code 20892
Country USA
Platforms (1)
GPL571 [HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array
Samples (14)
GSM544727 Control_1
GSM544728 Control_2
GSM544729 Control_3
BioProject PRJNA126861

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE21899_RAW.tar 27.8 Mb (http)(custom) TAR (of CEL)
Processed data included within Sample table

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