ID   GM17589
AC   CVCL_1J96
DR   CLO; CLO_0016962
DR   Coriell; GM17589
DR   Wikidata; Q54848982
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM17589).
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_1J95 ! GM17588
SX   Male
AG   42Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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