{"owner": "ArrayExpress Uploader", "pop_total": 0, "species": "mouse", "factors": [{"GSM1072316": {"GENOTYPE": "wild-type"}}, {"GSM1072316": {"GENOTYPE": "wild-type"}}, {"GSM1072318": {"GENOTYPE": "mutant (Gnptabc.3082insC)"}}, {"GSM1072318": {"GENOTYPE": "mutant (Gnptabc.3082insC)"}}], "id": 7150, "ownerprofile_id": "arrayexpress_sid", "platform": 6, "summary_wrapped": "Mucolipidosis type II (MLII) is a severe inherited multisystemic disorder caused by mutations in the GNPTAB gene. Skeletal abnormalities...", "geo_gse_id": "E-GEOD-43854", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 1, "sample_count": 4, "tags": ["bone", "calvaria", "cytosine", "genome", "mucolipidosis"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_gds_id": "", "slug": "expression-data-from-primary-osteoblasts-isolated", "geo_id_plat": "E-GEOD-43854_A-AFFY-45", "name": "Expression data from primary osteoblasts isolated from calvaria of Gnptab(c.3082insC) knock-in mice compared with osteoblasts isolated from wild-type littermates", "created": "Nov.12, 2014", "summary": "Mucolipidosis type II (MLII) is a severe inherited multisystemic disorder caused by mutations in the GNPTAB gene. Skeletal abnormalities are a predominant feature of MLII. Here we investigate the gene expression in a knock-in mouse model for mucolipidosis type II, generated by the insertion of a cytosine in the murine Gnptab gene (c.3082insC) that is homologous to a homozygous mutation in an MLII patient. Since osteoblasts are critically involved in regulating bone development and remodeling, a genome-wide expression analysis was performed  with RNA isolated from primary cultures of osteoblasts originating from MLII knock-in mice (KI) compared to RNA from wild-type (WT) osteoblasts to identify dysregulated genes involved in pathogenic mechanisms. Primary osteoblasts were isolated from calvaria of 5-day-old wild-type (WT) and MLII knock-in littermates (KI). RNA was extracted at day 10 of differentiation induced by ascorbic acid and beta-glycerophosphate and hybridization on Affymetrix microarrays. We used preparations of RNA from two individual primary cultures of osteoblasts for every genotype (WT_OB_I, WT_OB_II, KI_OB_I, KI_OB_II) and compared WT vs KI samples.", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-43854", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-43854/samples/"}