ID   GM17947
AC   CVCL_4D63
DR   CLO; CLO_0016284
DR   BioSample; SAMN00805446
DR   Coriell; GM17947
DR   Wikidata; Q54849346
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM17947).
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_4D70 ! GM17955
SX   Male
AG   20Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 15
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