ID   XP17BE
AC   CVCL_3815
SY   Xeroderma Pigmentosum 17 BEthesda; GM10428; GM 10428
DR   CLO; CLO_0009661
DR   CLO; CLO_0028646
DR   ATCC; CRL-1360
DR   BioSample; SAMN00800013
DR   BioSample; SAMN03471356
DR   Coriell; GM10428
DR   Wikidata; Q54994891
RX   CelloPub=CLPUB00447;
RX   PubMed=273925;
RX   PubMed=1372108;
RX   PubMed=18470933;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Asp681Asn (c.2041G>A); ClinVar=VCV000016787; Zygosity=Heterozygous (PubMed=18470933).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=18470933).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): ATCC=CRL-1360
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 11,12
ST   D16S539: 9,10
ST   D18S51: 15
ST   D19S433: 13,14
ST   D21S11: 28,30
ST   D2S1338: 16,19
ST   D3S1358: 14,16
ST   D5S818: 12,13
ST   D7S820: 9,11
ST   D8S1179: 11,14
ST   FGA: 22
ST   Penta D: 11,13
ST   Penta E: 13,14
ST   TH01: 6,7
ST   TPOX: 9,11
ST   vWA: 15,19
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L778 ! XP17BE LCL
SX   Male
AG   14Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 02-05-24; Version: 20
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984;
RA   Andrews A.D., Barrett S.F., Robbins J.H.;
RT   "Xeroderma pigmentosum neurological abnormalities correlate with
RT   colony-forming ability after ultraviolet radiation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978).
//
RX   PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b;
RA   Johnson R.T., Squires S.;
RT   "The XPD complementation group. Insights into xeroderma pigmentosum,
RT   Cockayne's syndrome and trichothiodystrophy.";
RL   Mutat. Res. 273:97-118(1992).
//
RX   PubMed=18470933; DOI=10.1002/humu.20768;
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).
//