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Cellosaurus GM27925 (CVCL_A5MN)

[Text version]
Cell line name GM27925
Synonyms GM27925*B
Accession CVCL_A5MN
Resource Identification Initiative To cite this cell line use: GM27925 (RRID:CVCL_A5MN)
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=GM27925).
Disease Osteogenesis imperfecta type IV (NCIt: C98576)
Osteogenesis imperfecta type 4 (ORDO: Orphanet_216820)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_V714 (GM17414)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27925
Encyclopedic resources Wikidata; Q107115189
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number7