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Cellosaurus GM27955 (CVCL_C7LC)

[Text version]
Cell line name GM27955
Accession CVCL_C7LC
Resource Identification Initiative To cite this cell line use: GM27955 (RRID:CVCL_C7LC)
Comments Population: Chinese; Taiwan.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4175; GATM; Simple; p.Ala97Valfs*11 (c.484+1G>T); ClinVar=VCV000021299; Zygosity=Homozygous (Coriell=GM27955).
Disease Cerebral creatine deficiency syndrome 3 (NCIt: C198575)
L-arginine:glycine amidinotransferase deficiency (ORDO: Orphanet_35704)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C7LD (GM28589)
Sex of cell Female
Age at sampling 18Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27955
Encyclopedic resources Wikidata; Q117704355
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4