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Cellosaurus GM27386 (CVCL_VV70)

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Cell line name GM27386
Accession CVCL_VV70
Resource Identification Initiative To cite this cell line use: GM27386 (RRID:CVCL_VV70)
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.Glu139Lys (c.415G>A); ClinVar=VCV000021143; Zygosity=Heterozygous (Coriell=GM27386).
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Arg141His (c.422G>A); ClinVar=VCV000007706; Zygosity=Heterozygous (Coriell=GM27386).
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 Female
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27386
Encyclopedic resources Wikidata; Q93933200
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number11