{"owner": "ArrayExpress Uploader", "ownerprofile_id": "arrayexpress_sid", "species": "human", "factors": [{"GSM437494": {"disease state": "choroideremia", "cell type": "monocyte"}}, {"GSM437494": {"disease state": "choroideremia", "cell type": "monocyte"}}, {"GSM437494": {"disease state": "choroideremia", "cell type": "monocyte"}}, {"GSM437497": {"disease state": "choroideremia", "cell type": "fibroblast"}}, {"GSM437497": {"disease state": "choroideremia", "cell type": "fibroblast"}}, {"GSM437497": {"disease state": "choroideremia", "cell type": "fibroblast"}}, {"GSM437497": {"disease state": "choroideremia", "cell type": "fibroblast"}}, {"GSM437494": {"disease state": "choroideremia", "cell type": "monocyte"}}, {"GSM437494": {"disease state": "choroideremia", "cell type": "monocyte"}}, {"GSM437494": {"disease state": "choroideremia", "cell type": "monocyte"}}, {"GSM437504": {"disease state": "normal", "cell type": "monocyte"}}, {"GSM437505": {"disease state": "normal", "cell type": "fibroblast"}}, {"GSM437504": {"disease state": "normal", "cell type": "monocyte"}}, {"GSM437504": {"disease state": "normal", "cell type": "monocyte"}}, {"GSM437504": {"disease state": "normal", "cell type": "monocyte"}}], "id": 3382, "pop_total": 0, "platform": 4, "summary_wrapped": "Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1...", "pubmed_id": 20027300, "geo_gse_id": "E-GEOD-17549", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 2, "sample_count": 15, "tags": ["choroideremia", "protein", "skin"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_id_plat": "E-GEOD-17549_A-AFFY-44", "slug": "transcription-profiling-by-array-of-human-fibrob-2", "geo_gds_id": "", "name": "Transcription profiling by array of human fibroblasts and monocytes from patients with choroideremia", "created": "Sep.12, 2014", "summary": "Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could affect vesicular trafficking, exocytosis and secretion. To evaluate this hypothesis, intracellular vesicle transport, lysosomal acidification and rates of proteolytic degradation were studied in monocytes (CD14+ fraction) and primary skin fibroblasts from the nine age-matched controls and thirteen CHM patients carrying 10 different loss-of-function mutations. expression data were collected from 6 CHM patients' monocytes and 4 CHM primary fibroblasts cultures, monocytes or FB from 5 normal age-matched subjects were used as a control", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-17549", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-17549/samples/"}