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<biogps><data><item key="owner">ArrayExpress Uploader</item><item key="pop_total">0</item><item key="id">5175</item><item key="factors"><item><item key="Ctrl-1"><item key="DISEASE_STATE">normal</item></item></item><item><item key="Ctrl-1"><item key="DISEASE_STATE">normal</item></item></item><item><item key="Ctrl-1"><item key="DISEASE_STATE">normal</item></item></item><item><item key="Ctrl-1"><item key="DISEASE_STATE">normal</item></item></item><item><item key="Ctrl-1"><item key="DISEASE_STATE">normal</item></item></item><item><item key="Ctrl-1"><item key="DISEASE_STATE">normal</item></item></item><item><item key="Hom-1"><item key="DISEASE_STATE">Hutchinson-Gilford Progeria Syndrome</item></item></item><item><item key="Hom-1"><item key="DISEASE_STATE">Hutchinson-Gilford Progeria Syndrome</item></item></item><item><item key="Hom-1"><item key="DISEASE_STATE">Hutchinson-Gilford Progeria Syndrome</item></item></item></item><item key="ownerprofile_id">arrayexpress_sid</item><item key="platform">4</item><item key="summary_wrapped">Hutchinson-Gilford progeria syndrome (HGPS) is a genetic disorder displaying features reminiscent of premature senescence caused by...</item><item key="pubmed_id">21738662</item><item key="geo_gse_id">E-MEXP-3097</item><item key="owner_profile">/profile/8773/arrayexpressuploader</item><item key="factor_count">1</item><item key="sample_count">9</item><item key="tags"><item>genetic disorder</item><item>genome</item><item>hutchinson-gilford progeria syndrome</item><item>lamin a</item><item>nuclear lamina</item><item>skin</item><item>syndrome</item></item><item key="lastmodified">Dec.12, 2014</item><item key="is_default">False</item><item key="geo_id_plat">E-MEXP-3097_A-AFFY-44</item><item key="slug">transcription-profiling-of-primary-fibroblasts-fro</item><item key="geo_gds_id"/><item key="name">Transcription profiling of primary fibroblasts from a family with autosomal recessive Hutchinson-Gilford Progeria Syndrome</item><item key="created">Sep.22, 2014</item><item key="summary">Hutchinson-Gilford progeria syndrome (HGPS) is a genetic disorder displaying features reminiscent of premature senescence caused by germline mutations in the LMNA gene encoding lamin A and C, essential components of the nuclear lamina. By studying a family with homozygous LMNA mutation (K542N), we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C (J Med Genet 2004;41:609&#8211;614). With the aim to elucidate the molecular mechanisms underlying the pathogenesis of lamin A/C-related (hereditary) HGPS, we investigated primary cultured skin fibroblasts from affected homozygous K542N carriers (n=3), healthy heterozygotes (n=3), and controls (n=3) for differences in global gene expression using GeneChip Human Genome U133 Plus 2.0 arrays (Affymetrix UK Ltd.).</item><item key="source">http://www.ebi.ac.uk/arrayexpress/experiments/E-MEXP-3097</item><item key="species">human</item><item key="sample_source">http://www.ebi.ac.uk/arrayexpress/experiments/E-MEXP-3097/samples/</item></data></biogps>
