ID   GM15877
AC   CVCL_F508
SY   D6BE-ER2-9; XP6BE-ER2-9; XP6BE ER2-9
DR   CLO; CLO_0018646
DR   Coriell; GM15877
DR   Wikidata; Q54848249
RX   PubMed=8033104;
RX   PubMed=18470933;
CC   Population: Caucasian.
CC   Characteristics: Transfection of wildtype ERCC2 corrects the defects of this gene in the cell line.
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 3434; ERCC2.
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; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F505 ! XP6BE(SV)
SX   Female
AG   19Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 10-09-24; Version: 17
//
RX   PubMed=8033104;
RA   Gozukara E.M., Parris C.N., Weber C.A., Salazar E.P., Seidman M.M.,
RA   Watkins J.F., Prakash L., Kraemer K.H.;
RT   "The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet
RT   hypersensitivity and ultraviolet hypermutability of a shuttle vector
RT   replicated in xeroderma pigmentosum group D cells.";
RL   Cancer Res. 54:3837-3844(1994).
//
RX   PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783;
RA   Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G.,
RA   Nadem C., DiGiovanna J.J., Kraemer K.H.;
RT   "Persistence of repair proteins at unrepaired DNA damage distinguishes
RT   diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma
RT   pigmentosum vs. non-cancer-prone trichothiodystrophy.";
RL   Hum. Mutat. 29:1194-1208(2008).
//