Cellosaurus logo
expasy logo

Cellosaurus XP2YO (CVCL_F598)

[Text version]
Cell line name XP2YO
Synonyms Xeroderma Pigmentosum 2 YOnago; GM04313; GM04313C; GM04313D
Accession CVCL_F598
Resource Identification Initiative To cite this cell line use: XP2YO (RRID:CVCL_F598)
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.Thr567Ala (c.1699A>G) (T556A); Zygosity=Heterozygous (PubMed=9580660).
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Val657Glufs*28 (c.1971delT); 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)
Hierarchy Children:
CVCL_3244 (XP2YO(SV))
Sex of cell Female
Age at sampling 64Y
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=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
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=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=2039995
Yagi T., Tatsumi-Miyajima J., Sato M., Kraemer K.H., Takebe H.
Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F.
Cancer Res. 51:3177-3182(1991)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J., Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B.C., Kraemer K.H.
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Yagi T., Wood R.D., Takebe H.
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x
Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A., Jaspers N.G.J., Kleijer W.J.
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
J. Invest. Dermatol. 110:832-836(1998)

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)

PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900
Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D.
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)

Cross-references
Cell line collections (Providers) Coriell; GM04313
JCRB; KURB1092
JCRB; KURB1093
Cell line databases/resources CLO; CLO_0019547
Encyclopedic resources Wikidata; Q54994915
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number19