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Cellosaurus CS2SE (CVCL_ZN64)

[Text version]
Cell line name CS2SE
Synonyms Cockayne Syndrome 2 SEndai
Accession CVCL_ZN64
Resource Identification Initiative To cite this cell line use: CS2SE (RRID:CVCL_ZN64)
Comments Population: Japanese.
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.Gln106Pro (c.317A>C); Zygosity=Heterozygous (PubMed=12655141).
  • Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asp93Leufs*26 (Ex4del); Zygosity=Heterozygous (PubMed=12655141).
Disease Cockayne syndrome type A (NCIt: C135725)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=7513056; DOI=10.1016/0921-8777(94)90068-x
Itoh T., Ono T., Yamaizumi M.
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations.
Mutat. Res. 314:233-248(1994)

PubMed=12655141; DOI=10.1266/ggs.78.93
Ren Y., Saijo M., Nakatsu Y., Nakai H., Yamaizumi M., Tanaka K.
Three novel mutations responsible for Cockayne syndrome group A.
Genes Genet. Syst. 78:93-102(2003)

Cross-references
Encyclopedic resources Wikidata; Q98125746
Entry history
Entry creation02-Jul-2020
Last entry update10-Apr-2025
Version number9