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; HGNC:3434; ERCC2; Simple; p.Asp681Asn (c.2041G>A); ClinVar=VCV000016787; Zygosity=Heterozygous (PubMed=18470933).
CC   Sequence variation: Mutation; HGNC; 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: 19-12-24; Version: 21
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RX   PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b;
RA   Johnson, Robert T.
RA   Squires, Shoshana
RT   "The XPD complementation group. Insights into xeroderma pigmentosum,
RT   Cockayne's syndrome and trichothiodystrophy.";
RL   Mutat. Res. 273:97-118(1992).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467;
RA   Andrews, Alan D.
RA   Barrett, Susanna F.
RA   Robbins, Jay 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).
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RX   PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783;
RA   Boyle, Jennifer
RA   Ueda, Takahiro
RA   Oh, Kyu-Seon
RA   Imoto, Kyoko
RA   Tamura, Deborah
RA   Jagdeo, Jared
RA   Khan, Sikandar G.
RA   Nadem, Carine
RA   DiGiovanna, John Joseph
RA   Kraemer, Kenneth 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).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//