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 Fujiwara Y., Ichihashi M., Uehara Y., Matsumoto A., Yamamoto Y., Kano Y., Tanakura Y. 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 Chang H.-R., Ishizaki K., Sasaki M.S., Toguchida J., Kato M., Nakamura Y., Kawamura S., Moriguchi T., Ikenaga M. 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 Nishigori C., Fujisawa H., Uyeno K., Kawaguchi T., Takebe H. 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 Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H. 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 creation | 13-Nov-2018 |
Last entry update | 19-Dec-2024 |
Version number | 10 |
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