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Cellosaurus GM20949 (CVCL_DB08)

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Cell line name GM20949
Accession CVCL_DB08
Resource Identification Initiative To cite this cell line use: GM20949 (RRID:CVCL_DB08)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23157; ALG6; Simple; c.680+2T>G (IVS7+2T>G); ClinVar=VCV000030421; Zygosity=Heterozygous; Note=Causes skipping of exons 7-12 plus 22 bases of exon 13 (Coriell=GM20949).
  • Mutation; HGNC; HGNC:23157; ALG6; Simple; p.Ile299del (c.897_899delAAT) (c.894_896AAT[1]); ClinVar=VCV000030420; Zygosity=Heterozygous (Coriell=GM20949).
Disease Congenital disorder of glycosylation type Ic (NCIt: C126869)
ALG6-CDG (ORDO: Orphanet_79320)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 21Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20949
Cell line databases/resources CLO; CLO_0015362
Encyclopedic resources Wikidata; Q54851489
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number16