Cellosaurus cell line XP42RO (CVCL

Cellosaurus XP42RO (CVCL_ZP20)

[Text][XML][JSON]

Cell line name

XP42RO

Synonyms

Xeroderma Pigmentosum 42 ROtterdam

Accession

CVCL_ZP20

Resource Identification Initiative

To cite this cell line use: XP42RO (RRID:CVCL_ZP20)

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.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Homozygous (PubMed=9579555).

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_ZP58 (XP42RO-hTERT)

Sex of cell

Male

Age at sampling

62Y

Category

Finite cell line

Publications

PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x
Anneke M. Sijbers, Pieter C. van Voorst Vader, Jos W. Snoek, Anja Raams, Nicolaas G.J. Jaspers, Wim J. Kleijer;
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=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669
Anwaar Ahmad, Jacqueline Henriette Enzlin, Nikhil R. Bhagwat, Nils Wijgers, Anja Raams, Esther Appledoorn, Arjan F. Theil, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Nicolaas G.J. Jaspers, Orlando David Scharer, Laura J. Niedernhofer;
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:e1000871.1-e1000871.11(2010)

Cross-references

Encyclopedic resources

Wikidata; Q98135814

Entry history

Entry creation

02-Jul-2020

Last entry update

19-Dec-2024

Version number