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Cellosaurus GM20942 (CVCL_DB03)

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Cell line name GM20942
Accession CVCL_DB03
Resource Identification Initiative To cite this cell line use: GM20942 (RRID:CVCL_DB03)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Phe119Leu (c.357C>A); ClinVar=VCV000007711; Zygosity=Heterozygous (Coriell=GM20942).
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Arg141His (c.422G>A); ClinVar=VCV000007706; Zygosity=Heterozygous (Coriell=GM20942).
Disease Congenital disorder of glycosylation type Ia (NCIt: C126868)
PMM2-CDG (ORDO: Orphanet_79318)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20942
Cell line databases/resources CLO; CLO_0015367
Encyclopedic resources Wikidata; Q54851484
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12