ID   XPG415A
AC   CVCL_ZQ16
DR   Wikidata; Q98136304
RX   PubMed=3010096;
CC   Sequence variation: Mutation; HGNC; 3437; ERCC5; Simple; p.Arg372Thrfs*5 (c.1115_1118delGGAA); ClinVar=VCV000016574; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 3437; ERCC5; Simple; p.Leu858Pro (c.2573T>C); ClinVar=VCV000016573; Zygosity=Heterozygous (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; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_M223 ! XP2BI
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 05-10-23; 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).
//