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Cellosaurus XP6TO (CVCL_9S70)

[Text version]
Cell line name XP6TO
Synonyms Xeroderma Pigmentosum 6 TOkyo
Accession CVCL_9S70
Resource Identification Initiative To cite this cell line use: XP6TO (RRID:CVCL_9S70)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=1702221).
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 7Y
Category Finite cell line
Publications

PubMed=832273
Takebe H., Miki Y., Kozuka T., Furuyama J.-i., Tanaka K., Sasaki M.S., Fujiwara Y., Akiba H.
DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.
Cancer Res. 37:490-495(1977)

PubMed=273925; DOI=10.1073/pnas.75.4.1984
Andrews A.D., Barrett S.F., Robbins J.H.
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908
Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S., Okada Y.
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M
Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y., Kondo S., Okada Y.
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutat. Res. 273:193-202(1992)

Cross-references
Cell line collections (Providers) JCRB; KURB1370
Encyclopedic resources Wikidata; Q54994961
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number10