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Cellosaurus GM20100 (CVCL_DA80)

[Text version]
Cell line name GM20100
Accession CVCL_DA80
Resource Identification Initiative To cite this cell line use: GM20100 (RRID:CVCL_DA80)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:19358; ALG12; Simple; p.Tyr230Asp (c.688T>G); Zygosity=Heterozygous (Coriell=GM20100).
  • Mutation; HGNC; HGNC:19358; ALG12; Simple; p.Arg311Cys (c.931C>T); ClinVar=VCV000377465; Zygosity=Heterozygous (Coriell=GM20100).
Disease Congenital disorder of glycosylation type Ig (NCIt: C126873)
ALG12-CDG (ORDO: Orphanet_79324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20100
Cell line databases/resources CLO; CLO_0028337
Encyclopedic resources Wikidata; Q54850801
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13