Cellosaurus cell line GM01389 (CVCL_F028)

• Mutation; HGNC; 2718; DDB2; Simple; p.Asn349del (c.1045_1047delAAC); ClinVar=VCV002137064; Zygosity=Heterozygous (PubMed=10777490; PubMed=12812979; PubMed=26184184).
  
• Mutation; HGNC; 2718; DDB2; Simple; p.Leu350Pro (c.1049T>C); ClinVar=VCV002137065; Zygosity=Heterozygous (PubMed=10777490; PubMed=12812979; PubMed=26184184).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=9584159; DOI=10.1128/mcb.18.6.3182
Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D.
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)

PubMed=10655550; DOI=10.1093/hmg/9.3.403
Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

PubMed=10777490; DOI=10.1074/jbc.M000960200
Nichols A.F., Itoh T., Graham J.A., Liu W., Yamaizumi M., Linn S.M.
Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation.
J. Biol. Chem. 275:21422-21428(2000)

PubMed=12812979; DOI=10.1093/hmg/ddg174
Rapic-Otrin V., Navazza V., Nardo T., Botta E., McLenigan M., Bisi D.C., Levine A.S., Stefanini M.
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.
Hum. Mol. Genet. 12:1507-1522(2003)

PubMed=26184184; DOI=10.3390/ijms160715985
Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)