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Cellosaurus GM21872 (CVCL_7663)

[Text version]
Cell line name GM21872
Accession CVCL_7663
Resource Identification Initiative To cite this cell line use: GM21872 (RRID:CVCL_7663)
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.Lys103Glufs*2 (c.307_311delAAAGA) (I102fs*1); ClinVar=VCV000021243; Zygosity=Homozygous (Coriell=GM21872).
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_5R39 ! GM21871
Sex of cell Female
Age at sampling 25FW
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21872
Encyclopedic resources Wikidata; Q54852192
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number16