{"owner": "ArrayExpress Uploader", "ownerprofile_id": "arrayexpress_sid", "species": "human", "factors": [{"GSM553488": {"AGE": "18 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Average Clinical Course", "SEX": "female", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Female, 18 Years"}}, {"GSM553489": {"AGE": "10 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Average Clinical Course", "SEX": "male", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Male, 10 Years"}}, {"GSM553490": {"AGE": "9 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Average Clinical Course", "SEX": "female", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Female, 9 Years"}}, {"GSM55349": {"AGE": "12 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Average Clinical Course", "SEX": "male", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Male, 12 Years"}}, {"GSM553492": {"AGE": "12 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Rapid Clinical Course", "SEX": "female", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Female, 12 Years"}}, {"GSM553492": {"AGE": "12 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Rapid Clinical Course", "SEX": "female", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Female, 12 Years"}}, {"GSM553494": {"AGE": "28 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Slow Clinical Course", "SEX": "male", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Male, 28 Years"}}, {"GSM553495": {"AGE": "29 Years", "GENOYTPE": "CLN3 1kb Deletion (c.462-677del)", "DISEASE PROGRESSION": "Slow Clinical Course", "SEX": "male", "DISEASE STATE": "CLN3", "SAMPLE TYPE": "CLN3 1kb Deletion (c.462-677del), Male, 29 Years"}}, {"GSM553496": {"AGE": "18 Years", "GENOYTPE": "control", "DISEASE PROGRESSION": "not specified", "SEX": "female", "DISEASE STATE": "healthy", "SAMPLE TYPE": "healthy, Female, 18 Years"}}, {"GSM553497": {"AGE": "10 Years", "GENOYTPE": "control", "DISEASE PROGRESSION": "not specified", "SEX": "male", "DISEASE STATE": "healthy", "SAMPLE TYPE": "healthy, Male, 10 Years"}}, {"GSM553498": {"AGE": "10 Years", "GENOYTPE": "control", "DISEASE PROGRESSION": "not specified", "SEX": "female", "DISEASE STATE": "healthy", "SAMPLE TYPE": "healthy, Female, 10 Years"}}, {"GSM553499": {"AGE": "12 Years", "GENOYTPE": "control", "DISEASE PROGRESSION": "not specified", "SEX": "female", "DISEASE STATE": "healthy", "SAMPLE TYPE": "healthy, Female, 12 Years"}}, {"GSM553500": {"AGE": "27 Years", "GENOYTPE": "control", "DISEASE PROGRESSION": "not specified", "SEX": "male", "DISEASE STATE": "healthy", "SAMPLE TYPE": "healthy, Male, 27 Years"}}, {"GSM55350": {"AGE": "29 Years", "GENOYTPE": "control", "DISEASE PROGRESSION": "not specified", "SEX": "male", "DISEASE STATE": "healthy", "SAMPLE TYPE": "healthy, Male, 29 Years"}}, {"GSM553502": {"AGE": "13 Years", "GENOYTPE": "control", "DISEASE PROGRESSION": "not specified", "SEX": "male", "DISEASE STATE": "healthy", "SAMPLE TYPE": "healthy, Male, 13 Years"}}], "id": 3687, "pop_total": 0, "platform": 4, "summary_wrapped": "Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by...", "geo_gse_id": "E-GEOD-22225", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 6, "sample_count": 15, "tags": ["disease", "epilepsy", "genome", "juvenile neuronal ceroid lipofuscinosis", "neuronal ceroid lipofuscinosis"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_id_plat": "E-GEOD-22225_A-AFFY-44", "slug": "cln3-patients-with-differing-progression-of-the-di", "geo_gds_id": "", "name": "CLN3 patients with differing progression of the disease", "created": "Sep.15, 2014", "summary": "Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. Although most CLN3 patients carry the same 1 kb deletion in the CLN3 gene, their disease phenotype can be variable. The aims of this study were (1) to identify genes that are dysregulated in CLN3 disease regardless of the clinical course that could be useful as biomarkers, and (2) to find modifier genes that affect the progression rate of the disease. Genome-wide expression profiling was performed in 8 CLN3 patients, homozygous for the 1 kb deletion, with different disease progression and compared to seven age and gender matched controls. Lymphocytes from eight patients diagnosed with CLN3 disease,all homozygous for the 1 kb deletion in the CLN3 gene and classified as having rapid (n = 2), average (n=4), and slow disease progression (n = 2), were used. These eight patients did not receive anticonvulsive medication. In addition, lymphocytes of seven age and gender matched controls were included in the study. Lymphocytes were prepared from fresh patient blood samples by Ficoll-gradient centrifugation (Biocoll\u00ae, Biochrom AG, Berlin, Germany) according to the manufacturer\u2019s protocol and used for RNA isolation (RNeasy\u00ae Micro Kit, Qiagen, Hilden, Germany).", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-22225", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-22225/samples/"}