Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
NA02548 DNA from Fibroblast

Description:

BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3

Affected:

Yes

Sex:

Male

Age:

6 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
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
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)].

Characterizations

back to top
Passage Frozen 8
 
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
 
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).
 
Gene RECQL3
Chromosomal Location 15q26.1
Allelic Variant 1 fs:514+1-X; BLOOM SYNDROME
Identified Mutation 1544insA
 
Gene RECQL3
Chromosomal Location 15q26.1
Allelic Variant 2 Q752X; BLOOM SYNDROME
Identified Mutation GLN752TER

Phenotypic Data

back to top
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)].

Publications

back to top
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
 
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 2021
PubMed ID: 35260714
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986
PubMed ID: 3956584
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Emerit I, Cerutti P, Clastogenic activity from Bloom syndrome fibroblast cultures. Proc Natl Acad Sci U S A78:1868-72 1981
PubMed ID: 6940194
 
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
 
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
 
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
 
Remsen JF, Repair of damage by N-acetoxy-2-acetylaminofluorene in Bloom's syndrome. Mutat Res72:151-4 1980
PubMed ID: 7442692
 
German J, Bloom D, Passarge E, Bloom's syndrome. VII. Progress report for 1978. Clin Genet15:361-7 1979
PubMed ID: 436333
 
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
 
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

External Links

back to top
dbSNP dbSNP ID: 15885
Gene Cards BLM
RECQL3
Gene Ontology GO:0003677 DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0016787 hydrolase activity
GO:0019735 antimicrobial humoral response (sensu Vertebrata)
GEO GEO Accession No: GSM1316977
GEO Accession No: GSM1317015
NCBI Gene Gene ID:641
NCBI GTR 210900 BLOOM SYNDROME; BLM
604610 RECQ PROTEIN-LIKE 3; RECQL3
OMIM 210900 BLOOM SYNDROME; BLM
604610 RECQ PROTEIN-LIKE 3; RECQL3
Omim Description BLOOM SYNDROME; BLM
  BS; BLS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM02548 - Fibroblast
Same Family
  • 1237
Miscellaneous
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube