Dataset Information


Niemann-Pick type C fibroblast analysis

ABSTRACT: Primary skin fibroblasts from four Niemann-Pick type C patients homozygous for the I1061T mutation and four control individuals were cultured under identical conditions in DMEM containing 10% fetal bovine serum. Cells were harvested at 50-70% confluency. mRNA was isolated with the FastTrack 2.0 mRNA isolation kit according to the manufacturer's instructions (Invitrogen, Carlsbad, CA). A reference RNA comprised of 10 cell lines was used as the control for each hybridized sample (Stratagene, La Jolla, CA). Both sample and reference RNAs were amplified using the MessageAmp II aRNA amplification kit (Ambion, Austin, TX). Set of arrays that are part of repeated experiments Biological Replicate Complex

ORGANISM(S): Homo sapiens  

SUBMITTER: Stanford Microarray Database   Jon Reddy 

PROVIDER: E-GEOD-8770 | ArrayExpress | 2007-08-15



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Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling.

Reddy Jonathan V JV   Ganley Ian G IG   Pfeffer Suzanne R SR  

PloS one 20061220

Niemann-Pick Type C (NPC) disease is a neurodegenerative disease that is characterized by the accumulation of cholesterol and glycosphingolipids in the late endocytic pathway. The majority of NPC cases are due to mutations in the NPC1 gene. The precise function of this gene is not yet known.Using cDNA microarrays, we analyzed the genome-wide expression patterns of human fibroblasts homozygous for the I1061T NPC1 mutation that is characterized by a severe defect in the intracellular processing of  ...[more]

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