Transcriptomics

Dataset Information

36

Global Gene Expression Profiles in Cultured Skin Fibroblasts Derived from Patients with Gaucher Disease


ABSTRACT: 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).

INSTRUMENT(S): [HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array

ORGANISM(S): Homo sapiens  

SUBMITTER: Kory R Johnson  

PROVIDER: GSE21899 | GEO | 2010-05-20

SECONDARY ACCESSION(S): PRJNA126861

REPOSITORIES: GEO

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