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Cellosaurus GM28257 (CVCL_B0IH)

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Cell line name GM28257
Accession CVCL_B0IH
Resource Identification Initiative To cite this cell line use: GM28257 (RRID:CVCL_B0IH)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (Coriell=GM28257).
  • Mutation; HGNC; HGNC:3439; ERCC8; Simple; c.173+1G>A; ClinVar=VCV000554440; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28257).
Disease Cockayne syndrome type A (NCIt: C135725)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28257
Encyclopedic resources Wikidata; Q108820322
Entry history
Entry creation23-Sep-2021
Last entry update10-Apr-2025
Version number8