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Cellosaurus GM20945 (CVCL_DB05)

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Cell line name GM20945
Accession CVCL_DB05
Resource Identification Initiative To cite this cell line use: GM20945 (RRID:CVCL_DB05)
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.Leu32Arg (c.95_96delinsGC) (c.95TA>GC); ClinVar=VCV000092807; Zygosity=Heterozygous (Coriell=GM20945).
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Phe157Ser (c.470T>C); ClinVar=VCV000188763; Zygosity=Heterozygous (Coriell=GM20945).
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 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20945
Cell line databases/resources CLO; CLO_0015365
Encyclopedic resources Wikidata; Q54851486
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12