Cellosaurus cell line XP42RO (CVCL

Cellosaurus XP42RO (CVCL_ZP20)

[Text version]

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
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=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669
Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:E1000871-E1000871(2010)

Cross-references

Encyclopedic resources

Wikidata; Q98135814

Entry history

Entry creation

02-Jul-2020

Last entry update

19-Dec-2024

Version number