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Cellosaurus GM20947 (CVCL_DB06)

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Cell line name GM20947
Accession CVCL_DB06
Resource Identification Initiative To cite this cell line use: GM20947 (RRID:CVCL_DB06)
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.Trp71Arg (c.211T>C); ClinVar=VCV000002130; Zygosity=Heterozygous (Coriell=GM20947).
  • Mutation; HGNC; HGNC:23056; ALG3; Simple; p.Met157Lys (c.470T>A); ClinVar=VCV000002131; Zygosity=Heterozygous (Coriell=GM20947).
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 Female
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20947
Cell line databases/resources CLO; CLO_0015364
Encyclopedic resources Wikidata; Q54851487
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13