{"owner": "ArrayExpress Uploader", "pop_total": 0, "id": 2913, "factors": [{"GSE12086GSM305069": {"disease state": "Usher syndrome"}}, {"GSE12086GSM305069": {"disease state": "Usher syndrome"}}, {"GSE12086GSM305071": {"disease state": "normal"}}, {"GSE12086GSM305070": {"disease state": "dominant retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}, {"GSE12086GSM305047": {"disease state": "recessive retinitis pigmentosa"}}], "ownerprofile_id": "arrayexpress_sid", "platform": 4, "summary_wrapped": "Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated...", "pubmed_id": 18806796, "geo_gse_id": "E-GEOD-12086", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 1, "sample_count": 25, "tags": ["cell", "disease", "genome", "lymphoblast", "retina", "retinitis", "retinitis pigmentosa"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_gds_id": "", "slug": "transcription-profiling-by-array-of-human-lympho-2", "geo_id_plat": "E-GEOD-12086_A-AFFY-44", "name": "Transcription profiling by array of human lymphoblast cell lines from patients with retinitis pigmentosa or Usher syndrome", "created": "Sep.03, 2014", "summary": "Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes based on low lymphoblast mRNA expression levels Experiment Overall Design: We established lymphoblast cell lines from 13 unrelated index patients with recessive RP as well all of their affected siblings (1 sibship with 4 affected members, 5 with 2 affected members, and 7 isolates) and 4 controls. RNA was isolated and hybridized on Affymetrix genechip Human Genome U133Plus2.0. After normalization, expression levels of the individual families were compared to the other samples; significance was tested using the Student t-test. The most significant suitable candidate genes were sequenced to screen for disease causing mutations and/or analyzed for segregation in the family.", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-12086", "species": "human", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-12086/samples/"}