Cellosaurus cell line XP51RO (CVCL

Cellosaurus XP51RO (CVCL_ZP55)

[Text version]

Cell line name

XP51RO

Synonyms

Xeroderma Pigmentosum 51 ROtterdam; XFE

Accession

CVCL_ZP55

Resource Identification Initiative

To cite this cell line use: XP51RO (RRID:CVCL_ZP55)

Comments

Population: Afghan.
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.Arg153Pro (c.458G>C); ClinVar=VCV000016581; Zygosity=Homozygous (PubMed=17183314; PubMed=20221251).

Disease

XFE progeroid syndrome (NCIt: C173111)
Genetic progeroid syndrome (ORDO: Orphanet_363245)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_ZP56 (XP51RO-hTERT)

Sex of cell

Male

Age at sampling

15Y

Category

Finite cell line

Publications

PubMed=17183314; DOI=10.1038/nature05456
Niedernhofer L.J., Garinis G.A., Raams A., Lalai A.S., Robinson A.R., Appeldoorn E., Odijk H., Oostendorp R.L., Ahmad A., van Leeuwen W., Theil A.F., Vermeulen W., van der Horst G.T.J., Meinecke P., Kleijer W.J., Vijg J., Jaspers N.G.J., Hoeijmakers J.H.J.
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Nature 444:1038-1043(2006)

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:e1000871.1-e1000871.11(2010)

Cross-references

Encyclopedic resources

Wikidata; Q98135908

Entry history

Entry creation

02-Jul-2020

Last entry update

19-Dec-2024

Version number