Home  |  Contact

Cellosaurus GM17578 (CVCL_4D46)

Cell line name GM17578
Accession CVCL_4D46
Resource Identification Initiative To cite this cell line use: GM17578 (RRID:CVCL_4D46)
Comments Population: Caucasian; Amish.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2198; COL1A2; Simple; p.Gly700Cys (c.2098G>T) (G610C); ClinVar=VCV000641929; Zygosity=Heterozygous (Coriell=GM17578).
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_4D47 ! GM17579
Sex of cell Female
Age at sampling 28Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM17578
Cell line databases/resources CLO; CLO_0016985
Encyclopedic resources Wikidata; Q54848976
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number12