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Cellosaurus GM17518 (CVCL_J694)

[Text version]
Cell line name GM17518
Accession CVCL_J694
Resource Identification Initiative To cite this cell line use: GM17518 (RRID:CVCL_J694)
Comments Population: Caucasian; Amish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM17518).
Disease Osteogenesis imperfecta type IV (NCIt: C98576)
Osteogenesis imperfecta type 4 (ORDO: Orphanet_216820)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_J693 ! GM17517
Sex of cell Female
Age at sampling 74Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17518
Cell line databases/resources CLO; CLO_0013040
Encyclopedic resources Wikidata; Q54848954
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number16