NA02548
DNA from Fibroblast
Description:
BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Black/African American
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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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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| URACIL DNA GLYCOSYLASE |
Seal et al (Proc Natl Acad Sci USA 85:2339-2343,1988) reported that monoclonal antibody, 40.10.09, to normal uracil DNA glycosylase did not react with the uracil DNA glycosylase from this Bloom syndrome culture. Immunoreactivity of the denatured enzyme with antibody 40.10.09 was observed by immunoblot analysis (Vollberg et al, Carcinogenesis 8:1725-1729,1987). |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 1 |
fs:514+1-X; BLOOM SYNDROME |
| Identified Mutation |
1544insA |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 2 |
Q752X; BLOOM SYNDROME |
| Identified Mutation |
GLN752TER |
| Remarks |
Clinically affected; B.S. Registry #71; increased sister chromatid exchange; increased post UV irradiation unscheduled DNA synthesis; donor subject is a compound heterozygote: one allele has a 1-bp insertion at nucleotide 1544 of the RECQL3 gene [1544insA] resulting in a frameshift and premature termination [fs:514+1-X] and a second allele has a C>T transition at nucleotide 2328 of the RECQL3 gene [2328C>T] resulting in a substitution of a termination codon for glutamine at codon 752 [Gln752Ter (Q752X)]. |
| Zita Gál, Stavroula Boukoura, Kezia Catharina Oxe, Sara Badawi, Blanca Nieto, Lea Milling Korsholm, Sille Blangstrup Geisler, Ekaterina Dulina, Anna Vestergaard Rasmussen, Christina Dahl, Wei Lv, Huixin Xu, Xiaoguang Pan, Stefanos Arampatzis, Danai-Eleni Stratou, Panagiotis Galanos, Lin Lin, Per Guldberg, Jiri Bartek, Yonglun Luo & Dorthe H. Larsen, Hyper-recombination in ribosomal DNA is driven by long-range resection-independent RAD51 accumulation Nature Communications: 2024 |
| PubMed ID: 39242676 |
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| Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G, A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease Scientific reports12:4091 2022 |
| PubMed ID: 35260714 |
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| German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA, Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry Human mutation28:743-53 2007 |
| PubMed ID: 17407155 |
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| Lu X, Lane DP, Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell75:765-78 1993 |
| PubMed ID: 8242748 |
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| Fukunaga N, Burrows HL, Meyers M, Schea RA, Boothman DA, Enhanced induction of tissue-type plasminogen activator in normal human cells compared to cancer-prone cells following ionizing radiation. Int J Radiat Oncol Biol Phys24(5):949-57 1992 |
| PubMed ID: 1447036 |
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| Goldstein S, Jones RA, Hardin JW, Braunstein GD, Shmookler Reis RJ, Expression of alpha- and beta-human chorionic gonadotropin subunits in cultured human cells. In Vitro Cell Dev Biol26:857-64 1990 |
| PubMed ID: 1699921 |
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| Seal G, Henderson EE, Sirover MA, Immunological alteration of the Bloom's syndrome uracil DNA glycosylase in Epstein-Barr virus-transformed human lymphoblastoid cells. Mutat Res243:241-8 1990 |
| PubMed ID: 2155388 |
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| Boothman DA, Bouvard I, Hughes EN, Identification and characterization of X-ray-induced proteins in human cells. Cancer Res49:2871-8 1989 |
| PubMed ID: 2720648 |
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| Vollberg TM, Siegler KM, Cool BL, Sirover MA, Isolation and characterization of the human uracil DNA glycosylase gene. Proc Natl Acad Sci U S A86:8693-7 1989 |
| PubMed ID: 2813420 |
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| Kenne K, Ljungquist S, Expression of a DNA-ligase-stimulatory factor in Bloom's syndrome cell line GM1492. Eur J Biochem174:465-70 1988 |
| PubMed ID: 3391163 |
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| Seal G, Brech K, Karp SJ, Cool BL, Sirover MA, Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci U S A85:2339-43 1988 |
| PubMed ID: 3353381 |
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| Vollberg TM, Seal G, Sirover MA, Monoclonal antibodies detect conformational abnormality of uracil DNA glycosylase in Bloom's syndrome cells. Carcinogenesis8:1725-9 1987 |
| PubMed ID: 3664966 |
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| Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987 |
| PubMed ID: 3030788 |
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| Dehazya P, Sirover MA, Regulation of hypoxanthine DNA glycosylase in normal human and Bloom's syndrome fibroblasts. Cancer Res46:3756-61 1986 |
| PubMed ID: 3731054 |
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| Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986 |
| PubMed ID: 3956584 |
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| Kim S, Vollberg TM, Ro JY, Kim M, Sirover MA, O6-methylguanine methyltransferase increases before S phase in normal human cells but does not increase in hypermutable Bloom's syndrome cells. Mutat Res173:141-5 1986 |
| PubMed ID: 3945242 |
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| Gupta PK, Sirover MA, Altered temporal expression of DNA repair in hypermutable Bloom's syndrome cells. Proc Natl Acad Sci U S A81:757-61 1984 |
| PubMed ID: 6583674 |
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| Kennedy AR, Radner BS, Nagasawa H, Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome. Proc Natl Acad Sci U S A81:1827-30 1984 |
| PubMed ID: 6584916 |
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| Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983 |
| PubMed ID: 6300669 |
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| Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983 |
| PubMed ID: 6196782 |
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| Parshad R, Sanford KK, Jones GM, Chromatid damage after G2 phase x-irradiation of cells from cancer-prone individuals implicates deficiency in DNA repair. Proc Natl Acad Sci U S A80:5612-6 1983 |
| PubMed ID: 6577447 |
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| Giannelli F, Botcherby PK, Avery JA, The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts. Hum Genet60:357-9 1982 |
| PubMed ID: 6809595 |
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| Squires S, Johnson RT, Collins AR, Initial rates of DNA incision in UV-irradiated human cells: differences between normal, xeroderma pigmentosum and tumour cells. Mutat Res95:389-404 1982 |
| PubMed ID: 7121492 |
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| Emerit I, Cerutti P, Clastogenic activity from Bloom syndrome fibroblast cultures. Proc Natl Acad Sci U S A78:1868-72 1981 |
| PubMed ID: 6940194 |
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| Hirschi M, Netrawali MS, Remsen JF, Cerutti PA, Formation of DNA single-strand breaks by near-ultraviolet and gamma-rays in normal and Bloom's syndrome skin fibroblasts. Cancer Res41:2003-7 1981 |
| PubMed ID: 7214368 |
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| Warren ST, Schultz RA, Chang CC, Wade MH, Trosko JE, Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Proc Natl Acad Sci U S A78:3133-7 1981 |
| PubMed ID: 6942420 |
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| Zbinden I, Cerutti P, Near-ultraviolet sensitivity of skin fibroblasts of patients with Bloom's syndrome. Biochem Biophys Res Commun98:579-87 1981 |
| PubMed ID: 7225114 |
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| Remsen JF, Repair of damage by N-acetoxy-2-acetylaminofluorene in Bloom's syndrome. Mutat Res72:151-4 1980 |
| PubMed ID: 7442692 |
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| German J, Bloom D, Passarge E, Bloom's syndrome. VII. Progress report for 1978. Clin Genet15:361-7 1979 |
| PubMed ID: 436333 |
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| Selsky CA, Henson P, Weichselbaum RR, Little JB, Defective reactivation of ultraviolet light-irradiated herpesvirus by a Bloom's syndrome fibroblast strain. Cancer Res39:3392-6 1979 |
| PubMed ID: 225021 |
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| Selsky, Defective host-cell reactivation of UV-i rradiated herpes simplex virus by Bloom's syndrome skin fibroblasts. (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 555:3392-6 1978 |
| PubMed ID: 225021 |
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