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Cellosaurus GM28782 (CVCL_D6YP)

[Text version]
Cell line name GM28782
Accession CVCL_D6YP
Resource Identification Initiative To cite this cell line use: GM28782 (RRID:CVCL_D6YP)
Comments Population: Caucasian.
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.Met1Val (c.1A>G); ClinVar=VCV000205591; Zygosity=Heterozygous (Coriell=GM28782).
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Val110Phe (c.328G>T); ClinVar=VCV000205580; Zygosity=Heterozygous (Coriell=GM28782).
Disease Cerebral creatine deficiency syndrome 2 (NCIt: C173468)
Guanidinoacetate methyltransferase deficiency (ORDO: Orphanet_382)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28782
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2