ID   XP12ROB4
AC   CVCL_VP52
DR   Wikidata; Q98135285
RX   PubMed=10334196;
CC   Population: Palestinian.
CC   Characteristics: Combines defects in three DNA repair functions: MGMT, MMR and NER. Does not express MSH2.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg207Ter (c.619C>T); ClinVar=VCV000000996; Zygosity=Homozygous (from parent cell line).
CC   Transformant: ChEBI; CHEBI_50102; N-methyl-N-nitrosourea (NMU).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_VP50 ! XP12RO
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
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RX   PubMed=10334196; DOI=10.1093/carcin/20.5.799;
RA   O'Driscoll M., Martinelli S., Ciotta C., Karran P.;
RT   "Combined mismatch and nucleotide excision repair defects in a human
RT   cell line: mismatch repair processes methylation but not UV- or
RT   ionizing radiation-induced DNA damage.";
RL   Carcinogenesis 20:799-804(1999).
//