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Cellosaurus GM17414 (CVCL_V714)

[Text version]
Cell line name GM17414
Accession CVCL_V714
Resource Identification Initiative To cite this cell line use: GM17414 (RRID:CVCL_V714)
Comments Population: Caucasian; Amish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM17414).
Disease Osteogenesis imperfecta type IV (NCIt: C98576)
Osteogenesis imperfecta type 4 (ORDO: Orphanet_216820)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A5MN (GM27925)
Originate from same individual CVCL_V713 ! GM17413
Sex of cell Male
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM17414
Cell line databases/resources CLO; CLO_0012293
Encyclopedic resources Wikidata; Q54848850
Entry history
Entry creation17-Jul-2014
Last entry update19-Dec-2024
Version number15