ID   XPVAR-1
AC   CVCL_ZQ17
SY   XPvar-1
DR   Wikidata; Q98136352
RX   PubMed=3010096;
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Gln373Ter (c.1117C>T); ClinVar=VCV000005890; Zygosity=Homozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
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_7358 ! XP115LO 2
SX   Male
AG   25Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 10-09-24; Version: 8
//
RX   PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0;
RA   Barbis D.P., Schultz R.A., Friedberg E.C.;
RT   "Isolation and partial characterization of virus-transformed cell
RT   lines representing the A, G and variant complementation groups of
RT   xeroderma pigmentosum.";
RL   Mutat. Res. 165:175-184(1986).
//