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Cellosaurus GM28379 (CVCL_D6XM)

[Text version]
Cell line name GM28379
Accession CVCL_D6XM
Resource Identification Initiative To cite this cell line use: GM28379 (RRID:CVCL_D6XM)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Val78Glu (c.233T>A); Zygosity=Heterozygous (Coriell=GM28379).
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Arg105Glyfs*26 (c.299_311dup13); ClinVar=VCV000008302; Zygosity=Heterozygous (Coriell=GM28379).
Disease Cerebral creatine deficiency syndrome 2 (NCIt: C173468)
Guanidinoacetate methyltransferase deficiency (ORDO: Orphanet_382)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D3A1 ! GM28756
Sex of cell Female
Age at sampling 18Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28379
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2