ID   GM17518
AC   CVCL_J694
DR   CLO; CLO_0013040
DR   Coriell; GM17518
DR   Wikidata; Q54848954
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM17518).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98576; Osteogenesis imperfecta type IV
DI   ORDO; Orphanet_216820; Osteogenesis imperfecta type 4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_J693 ! GM17517
SX   Female
AG   74Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 16
//