ID   TR30-9
AC   CVCL_WY39
DR   Wikidata; Q98133528
RX   PubMed=16520097;
CC   Population: Lebanese.
CC   Characteristics: Wild type transfected POLH can be expressed upon addition of tetracycline.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Ala35fs (c.104_116del); Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:9181; POLH.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7395 ! XP30RO
SX   Male
AG   30Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=16520097; DOI=10.1016/j.dnarep.2006.01.008;
RA   Cruet-Hennequart S., Coyne S., Glynn M.T., Oakley G.G., Carty M.P.;
RT   "UV-induced RPA phosphorylation is increased in the absence of DNA
RT   polymerase eta and requires DNA-PK.";
RL   DNA Repair 5:491-504(2006).
//