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Cellosaurus GM17579 (CVCL_4D47)

Cell line name GM17579
Accession CVCL_4D47
Resource Identification Initiative To cite this cell line use: GM17579 (RRID:CVCL_4D47)
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; 2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM17579).
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_4D46 ! GM17578
Sex of cell Female
Age at sampling 28Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17579
Cell line databases/resources CLO; CLO_0016986
Encyclopedic resources Wikidata; Q54848977
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number13