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Cellosaurus XP23CA (CVCL_V267)

[Text version]
Cell line name XP23CA
Synonyms Xeroderma Pigmentosum 23 CAiro; AG06929; AG6929
Accession CVCL_V267
Resource Identification Initiative To cite this cell line use: XP23CA (RRID:CVCL_V267)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous (PubMed=9671271; Coriell=AG06929).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 18Y
Category Finite cell line
Publications

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
States J.C., McDuffie E.R., Myrand S.P., McDowell M., Cleaver J.E.
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
Hum. Mutat. 12:103-113(1998)

Cross-references
Cell line collections (Providers) Coriell; AG06929
Cell line databases/resources CLO; CLO_0035477
Encyclopedic resources Wikidata; Q54740455
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number14