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Cellosaurus GM28756 (CVCL_D3A1)

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Cell line name GM28756
Accession CVCL_D3A1
Resource Identification Initiative To cite this cell line use: GM28756 (RRID:CVCL_D3A1)
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.Val78Glu (c.233T>A); ClinVar=VCV002683728; Zygosity=Heterozygous (Coriell=GM28756).
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Arg105Glyfs*26 (c.299_311dup13); ClinVar=VCV000008302; Zygosity=Heterozygous (Coriell=GM28756).
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_D6Z4 (GM28936)
Originate from same individual CVCL_D6XM ! GM28379
Sex of cell Female
Age at sampling 18Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28756
Encyclopedic resources Wikidata; Q127380923
Entry history
Entry creation30-Jan-2024
Last entry update27-Nov-2025
Version number4