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Cellosaurus XP126LO (CVCL_ZP19)

[Text version]
Cell line name XP126LO
Synonyms Xeroderma Pigmentosum 126 LOndon
Accession CVCL_ZP19
Resource Identification Initiative To cite this cell line use: XP126LO (RRID:CVCL_ZP19)
Comments Population: Caucasian.
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.Thr770Profs*46 (c.2304_2307delTCTC) (2281del4); ClinVar=VCV000016579; Zygosity=Heterozygous (PubMed=8797827).
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Heterozygous (PubMed=8797827).
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 22Y
Category Finite cell line
Publications

PubMed=8797827; DOI=10.1016/S0092-8674(00)80155-5
Sijbers A.M., de Laat W.L., Ariza R.R., Biggerstaff M., Wei Y.-F., Moggs J.G., Carter K.C., Shell B.K., Evans E., de Jong M.C., Rademakers S., de Rooij J., Jaspers N.G.J., Hoeijmakers J.H.J., Wood R.D.
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
Cell 86:811-822(1996)

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)

Cross-references
Encyclopedic resources Wikidata; Q98135264
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8