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Cellosaurus AS551 (CVCL_ZR69)

[Text version]
Cell line name AS551
Accession CVCL_ZR69
Resource Identification Initiative To cite this cell line use: AS551 (RRID:CVCL_ZR69)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ile456del (c.1361_1363TCA[2]) (1439_1441delTCA); ClinVar=VCV000620626; Zygosity=Heterozygous (PubMed=19934020).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Finite cell line
Publications

PubMed=19934020; DOI=10.1084/jem.20091892; PMCID=PMC2806454
Ueda T., Compe E., Catez P., Kraemer K.H., Egly J.-M.
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
J. Exp. Med. 206:3031-3046(2009)

Cross-references
Encyclopedic resources Wikidata; Q98125495
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7