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Cellosaurus GM12604 (CVCL_Y706)

[Text version]
Cell line name GM12604
Accession CVCL_Y706
Resource Identification Initiative To cite this cell line use: GM12604 (RRID:CVCL_Y706)
Comments Population: Caucasian.
Derived from site: In situ; Liver; UBERON=UBERON_0002107.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:8512; OTC; Simple; p.Asp175Val (c.524A>T); ClinVar=VCV000097233; Zygosity=Heterozygous (Coriell=GM12604).
Disease Ornithine carbamoyltransferase deficiency disease (NCIt: C84957)
Ornithine transcarbamylase deficiency (ORDO: Orphanet_664)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM12604
Cell line databases/resources CLO; CLO_0018077
Encyclopedic resources Wikidata; Q54845894
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number13