Cellosaurus logo
expasy logo

Cellosaurus GM20950 (CVCL_DB09)

[Text version]
Cell line name GM20950
Accession CVCL_DB09
Resource Identification Initiative To cite this cell line use: GM20950 (RRID:CVCL_DB09)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23056; ALG3; Simple; p.Arg171Gln (c.512G>A); ClinVar=VCV000002129; Zygosity=Homozygous (Coriell=GM20950).
Disease Congenital disorder of glycosylation type Id (NCIt: C126870)
ALG3-CDG (ORDO: Orphanet_79321)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2W
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20950
Cell line databases/resources CLO; CLO_0015360
Encyclopedic resources Wikidata; Q54851490
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12