Cell line name |
XP125LO LCL |
Synonyms |
Xeroderma Pigmentosum 125 LOndon LCL; XPG83; XPG 83; LB83 |
Accession |
CVCL_2572 |
Resource Identification Initiative |
To cite this cell line use: XP125LO LCL (RRID:CVCL_2572) |
Comments |
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
Sequence variations |
- Mutation; HGNC; 3437; ERCC5; Simple; p.Ala792Val (c.2375C>T) (2572C>T); ClinVar=VCV000016567; Zygosity=Heterozygous (PubMed=7951246).
- Mutation; HGNC; 3437; ERCC5; Simple; p.Glu960Ter (c.2878G>T) (3075G>T); ClinVar=VCV000016566; Zygosity=Heterozygous (PubMed=7951246).
|
Disease |
Xeroderma pigmentosum, complementation group G (NCIt: C3969) Xeroderma pigmentosum (ORDO: Orphanet_910) |
Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
Originate from same individual |
CVCL_W053 ! XP125LO |
Sex of cell |
Female |
Age at sampling |
15Y |
Category |
Transformed cell line |
Publications | PubMed=8327515; DOI=10.1073/pnas.90.13.6335 Satoh M.S., Jones C.J., Wood R.D., Lindahl T.R. DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions. Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993) PubMed=8483504; DOI=10.1038/363182a0 Scherly D., Nouspikel T., Corlet J., Ucla C., Bairoch A., Clarkson S.G. Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. Nature 363:182-185(1993) PubMed=8483505; DOI=10.1038/363185a0 O'Donovan A., Wood R.D. Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. Nature 363:185-188(1993) PubMed=7951246; DOI=10.1093/hmg/3.6.963 Nouspikel T., Clarkson S.G. Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. Hum. Mol. Genet. 3:963-967(1994) PubMed=9096355; DOI=10.1073/pnas.94.7.3116 Nouspikel T., Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997) |
Cross-references |
Cell line collections (Providers) |
ECACC; 98062328
|
Encyclopedic resources |
Wikidata; Q54902092
|
Entry history |
Entry creation | 06-Jun-2012 |
Last entry update | 29-Jun-2023 |
Version number | 15 |
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