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Cellosaurus XP7TO (CVCL_9S71)

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Cell line name XP7TO
Synonyms Xeroderma Pigmentosum 7 TOkyo
Accession CVCL_9S71
Resource Identification Initiative To cite this cell line use: XP7TO (RRID:CVCL_9S71)
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: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 17Y
Category Finite cell line
Publications

PubMed=832273
Hiraku Takebe, Yoshiharu Miki, Takehito Kozuka, Jun-ichi Furuyama, Kiyoji Tanaka, Masao S. Sasaki, Yoshisada Fujiwara, Hiroshi Akiba;
DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.
Cancer Res. 37:490-495(1977)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
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
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Masashi Narita, Takashi Mimaki, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutat. Res. 273:193-202(1992)

Cross-references
Cell line collections (Providers) JCRB; KURB1043
Encyclopedic resources Wikidata; Q54994964
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12