GM02252
LCL from B-Lymphocyte
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| DNA METHYLATION |
Sano et al (Mutation Res 217:141-151,1989) examined DNA methylation in XP cells. The amount of 5-methylcytosine in DNA from XP cell lines was on average about 70% of that in DNA from normal controls. The value observed for this XP cell culture was 87%. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 1 |
133510.0001; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
SPLICE ACCEPTOR C>A, FS; The specific mutation in the sole patient with type B xeroderma pigmentosum identified to that time was found by Weeda et al. [Cell 62: 777-791 (1990)] to be a C-to-A transversion in the splice acceptor sequence of the last intron of the only ERCC3 allele that was detectably expressed, leading to a 4-bp (GCAG) insertion in the mRNA (at position 2220) and an inactivating frameshift in the C terminus of the protein. |
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| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 2 |
133510.0001; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
SPLICE ACCEPTOR C>A, FS; The specific mutation in the sole patient with type B xeroderma pigmentosum identified to that time was found by Weeda et al. [Cell 62: 777-791 (1990)] to be a C-to-A transversion in the splice acceptor sequence of the last intron of the only ERCC3 allele that was detectably expressed, leading to a 4-bp (GCAG) insertion in the mRNA (at position 2220) and an inactivating frameshift in the C terminus of the protein. |
| Remarks |
XP11BE; showed features of Cockayne syndrome; 37% of normal UV induced unscheduled DNA synthesis in fibroblasts; HLA type: Aw32,w24, Bw40,B12; donor subject is homozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene. |
| Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH, Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome HUMAN MUTATION27(11):1092-103 2006 |
| PubMed ID: 16947863 |
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| Weber A, Liu J, Collins I, Levens D, TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression Molecular and cellular biology25:147-61 2004 |
| PubMed ID: 15601838 |
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| Kim N, Kage K, Matsuda F, Lefranc MP, Storb U, B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes. J Exp Med186:413-9 1997 |
| PubMed ID: 9236193 |
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| Reardon JT, Bessho T, Kung HC, Bolton PH, Sancar A, In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients. Proc Natl Acad Sci U S A94:9463-8 1997 |
| PubMed ID: 9256505 |
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| Hwang JR, Moncollin V, Vermeulen W, Seroz T, van Vuuren H, Hoeijmakers JHJ, Egly JM, A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. J Biol Chem271:15898-904 1996 |
| PubMed ID: 8663148 |
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| Matsunaga T, Mu D, Park CH, Reardon JT, Sancar A, Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. J Biol Chem270:20862-9 1995 |
| PubMed ID: 7657672 |
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| Vilpo JA, Vilpo LM, Szymkowski DE, O'Donovan A, Wood RD, An XPG DNA repair defect causing mutagen hypersensitivity in mouse leukemia L1210 cells. Mol Cell Biol15:290-7 1995 |
| PubMed ID: 7799936 |
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| Park CH, Sancar A, Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins. Proc Natl Acad Sci U S A91:5017-21 1994 |
| PubMed ID: 8197175 |
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| Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ,
Bootsma D, Hoeijmakers JH, Weeda G, Clinical heterogeneity within xeroderma pigmentosum associated with mutations in
the DNA repair and transcription gene ERCC3. Am J Hum Genet54(2):191-200 1994 |
| PubMed ID: 8304337 |
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| Reardon JT, Thompson LH, Sancar A, Excision repair in man and the molecular basis of xeroderma pigmentosum syndrome. Cold Spring Harb Symp Quant Biol58:605-17 1993 |
| PubMed ID: 7956075 |
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| Biggerstaff M, Wood RD, Requirement for ERCC-1 and ERCC-3 gene products in DNA excision repair in vitro. Complementation using rodent and human cell extracts. J Biol Chem267:6879-85 1992 |
| PubMed ID: 1551896 |
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| Yanagisawa J, Seki M, Ui M, Enomoto T, Alteration of a DNA-dependent ATPase activity in xeroderma pigmentosum complementation group C cells. J Biol Chem267:3585-8 1992 |
| PubMed ID: 1310977 |
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| Robins P, Jones CJ, Biggerstaff M, Lindahl T, Wood RD, Complementation of DNA repair in xeroderma pigmentosum group A cell extracts by a protein with affinity for damaged DNA. EMBO J10:3913-21 1991 |
| PubMed ID: 1935910 |
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| Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990 |
| PubMed ID: 1702221 |
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| Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y, Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain [see comments] Nature348:73-6 1990 |
| PubMed ID: 2234061 |
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| Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH, A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell62:777-91 1990 |
| PubMed ID: 2167179 |
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| Sano H, Shiomi N, Imanishi K, Maie O, Shiomi T, DNA methylation in xeroderma pigmentosum. Mutat Res217:141-51 1989 |
| PubMed ID: 2918867 |
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| Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980 |
| PubMed ID: 7352988 |
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| Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG, Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med80:221-48 1974 |
| PubMed ID: 4811796 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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