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Cellosaurus XP101OS (CVCL_UH37)

[Text version]
Cell line name XP101OS
Synonyms Xeroderma Pigmentosum 101 OSaka
Accession CVCL_UH37
Resource Identification Initiative To cite this cell line use: XP101OS (RRID:CVCL_UH37)
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:3436; ERCC4; Simple; p.Ile225Met (c.675A>G) (I214M); Zygosity=Heterozygous (PubMed=9580660).
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Gly513Arg (c.1537G>A) (G502R); Zygosity=Heterozygous (PubMed=9580660).
Disease Xeroderma pigmentosum, complementation group F (NCIt: C3968)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 49Y
Category Finite cell line
Publications

PubMed=3834095; DOI=10.1269/jrr.26.443
Yoshisada Fujiwara, Masamitsu Ichihashi, Yoshihiko Uehara, Akira Matsumoto, Yoko Yamamoto, Yoshio Kano, Yoshimasa Tanakura;
Xeroderma pigmentosum groups C and F: additional assignments and a review of the subjects in Japan.
J. Radiat. Res. 26:443-449(1985)

PubMed=2570806; DOI=10.1111/1523-1747.ep12284030
Hae-Ryong Chang, Kanji Ishizaki, Masao S. Sasaki, Junya Toguchida, Mitsuo Kato, Yusuke Nakamura, Susumu Kawamura, Takahiko Moriguchi, Mituo Ikenaga;
Somatic mosaicism for DNA repair capacity in fibroblasts derived from a group A xeroderma pigmentosum patient.
J. Invest. Dermatol. 93:460-465(1989)

PubMed=1814424
Chikako Nishigori, Hiroshi Fujisawa, Kenichi Uyeno, T. Kawaguchi, Hiraku Takebe;
Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage.
Photodermatol. Photoimmunol. Photomed. 8:146-150(1991)

PubMed=9580660; DOI=10.1093/hmg/7.6.969
Yasuhiro Matsumura, Chikako Nishigori, Takashi Yagi, Sadao Imamura, Hiraku Takebe;
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.
Hum. Mol. Genet. 7:969-974(1998)

Cross-references
Cell line collections (Providers) JCRB; KURB1090
JCRB; KURB1091
Encyclopedic resources Wikidata; Q98135159
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10