ID GM16925 AC CVCL_4D28 DR CLO; CLO_0018113 DR Coriell; GM16925 DR Wikidata; Q54848807 CC Population: Caucasian; Amish. CC Sequence variation: Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM16925). CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C98576; Osteogenesis imperfecta type IV DI ORDO; Orphanet_216820; Osteogenesis imperfecta type 4 OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_4D27 ! GM16924 SX Male AG 44Y CA Finite cell line DT Created: 22-09-15; Last updated: 19-12-24; Version: 12 //