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Cellosaurus GM20467 (CVCL_7661)

[Text version]
Cell line name GM20467
Synonyms AG03970
Accession CVCL_7661
Resource Identification Initiative To cite this cell line use: GM20467 (RRID:CVCL_7661)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Gln202Ter (c.604C>T); ClinVar=VCV000001740; Zygosity=Heterozygous (Coriell=GM20467).
  • Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys253fs*12 (c.752delA); Zygosity=Heterozygous (Coriell=GM20467).
Disease Roberts-SC phocomelia syndrome (NCIt: C4681)
Roberts syndrome (ORDO: Orphanet_3103)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_7660 ! GM20466
Sex of cell Female
Age at sampling 33Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; AG03970 - Discontinued
Coriell; GM20467
Cell line databases/resources CLO; CLO_0029534
Biological sample resources BioSample; SAMN00805848
Encyclopedic resources Wikidata; Q54851040
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number19