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Cellosaurus GM27892 (CVCL_ZW56)

[Text version]
Cell line name GM27892
Accession CVCL_ZW56
Resource Identification Initiative To cite this cell line use: GM27892 (RRID:CVCL_ZW56)
Comments Population: Indian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Glu142del (c.424_426delGAG); dbSNP=rs1736323141; Zygosity=Homozygous (Coriell=GM27892).
Disease Cerebral creatine deficiency syndrome 2 (NCIt: C173468)
Guanidinoacetate methyltransferase deficiency (ORDO: Orphanet_382)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D6WN (GM29115)
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27892
Encyclopedic resources Wikidata; Q102113940
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7