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Cellosaurus GM28096 (CVCL_C7M5)

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Cell line name GM28096
Accession CVCL_C7M5
Resource Identification Initiative To cite this cell line use: GM28096 (RRID:CVCL_C7M5)
Comments Population: Caucasian; German.
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.Lys109Lys (c.327G>A); ClinVar=VCV000021065; Zygosity=Heterozygous; Note=Affects splicing (Coriell=GM28096).
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Trp174Ter (c.522G>A); ClinVar=VCV000205584; Zygosity=Heterozygous (Coriell=GM28096).
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_C7M4 ! GM28070
Sex of cell Male
Age at sampling 16Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28096
Encyclopedic resources Wikidata; Q117704376
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4