{"owner": "ArrayExpress Uploader", "pop_total": 0, "id": 5175, "factors": [{"Ctrl-1": {"DISEASE_STATE": "normal"}}, {"Ctrl-1": {"DISEASE_STATE": "normal"}}, {"Ctrl-1": {"DISEASE_STATE": "normal"}}, {"Ctrl-1": {"DISEASE_STATE": "normal"}}, {"Ctrl-1": {"DISEASE_STATE": "normal"}}, {"Ctrl-1": {"DISEASE_STATE": "normal"}}, {"Hom-1": {"DISEASE_STATE": "Hutchinson-Gilford Progeria Syndrome"}}, {"Hom-1": {"DISEASE_STATE": "Hutchinson-Gilford Progeria Syndrome"}}, {"Hom-1": {"DISEASE_STATE": "Hutchinson-Gilford Progeria Syndrome"}}], "ownerprofile_id": "arrayexpress_sid", "platform": 4, "summary_wrapped": "Hutchinson-Gilford progeria syndrome (HGPS) is a genetic disorder displaying features reminiscent of premature senescence caused by...", "pubmed_id": 21738662, "geo_gse_id": "E-MEXP-3097", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 1, "sample_count": 9, "tags": ["genetic disorder", "genome", "hutchinson-gilford progeria syndrome", "lamin a", "nuclear lamina", "skin", "syndrome"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_id_plat": "E-MEXP-3097_A-AFFY-44", "slug": "transcription-profiling-of-primary-fibroblasts-fro", "geo_gds_id": "", "name": "Transcription profiling of primary fibroblasts from a family with autosomal recessive Hutchinson-Gilford Progeria Syndrome", "created": "Sep.22, 2014", "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\u2013614). 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.).", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-MEXP-3097", "species": "human", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-MEXP-3097/samples/"}