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AG04103 LCL from B-Lymphocyte

Description:

WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS

Affected:

Yes

Sex:

Female

Age:

37 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity PUERTO RICAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor had features of diabetes, cataracts, sclerodermatous-like skin, prematurely white hair; nonhealing skin ulcers and arteriosclerotic cardiovascular disease. The culture was initiated on 5/23/80 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The culture is a mosaic with karyotype: 46,XX/47,XX,+9; unbalanced; 36%/64%. The donor subject is homozygous for a C>T transition at nucleotide 1336 in exon 9 of the RECQL2 gene (1336C>T) resulting in an amino acid change at codon 368 from arginine to a stop codon [Arg368Ter (R368X)]. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Gene RECQL2
Chromosomal Location 8p12-p11.2
Allelic Variant 1 604611.0006; WERNER SYNDROME
Identified Mutation ARG368TER; In 1 Caucasian and 3 Japanese patients with Werner syndrome (277700), Oshima et al. [Hum. Molec. Genet. 5: 1909-1913 (1996)] first reported this mutation (1336C-T), located in exon 9 of the WRN gene, that was predicted to produce a truncated protein lacking WRN helicase function.
 
Gene RECQL2
Chromosomal Location 8p12-p11.2
Allelic Variant 2 604611.0006; WERNER SYNDROME
Identified Mutation ARG368TER; In 1 Caucasian and 3 Japanese patients with Werner syndrome (277700), Oshima et al. [Hum. Molec. Genet. 5: 1909-1913 (1996)] first reported this mutation (1336C-T), located in exon 9 of the WRN gene, that was predicted to produce a truncated protein lacking WRN helicase function.

Phenotypic Data

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Remarks The donor had features of diabetes, cataracts, sclerodermatous-like skin, prematurely white hair; nonhealing skin ulcers and arteriosclerotic cardiovascular disease. The culture was initiated on 5/23/80 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The culture is a mosaic with karyotype: 46,XX/47,XX,+9; unbalanced; 36%/64%. The donor subject is homozygous for a C>T transition at nucleotide 1336 in exon 9 of the RECQL2 gene (1336C>T) resulting in an amino acid change at codon 368 from arginine to a stop codon [Arg368Ter (R368X)]. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Bracci AN, Dallmann A, Ding Q, Hubisz MJ, Caballero M, Koren A, The evolution of the human DNA replication timing program Proceedings of the National Academy of Sciences of the United States of America120:e2213896120 2023
PubMed ID: 36848554
 
Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics120:e2213896120 2021
PubMed ID: 35394024
 
Tavakoli Shirazi P, Leifert WR, Fenech MF, François M, Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome Mutation research826:47-52 2017
PubMed ID: 29412869
 
Johnson FB, Lombard DB, Neff NF, Mastrangelo MA, Dewolf W, Ellis NA, Marciniak RA, Yin Y, Jaenisch R, Guarente L, Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. Cancer Res60(5):1162-7 2000
PubMed ID: 10728666
 
Balajee AS, Machwe A, May A, Gray MD, Oshima J, Martin GM, Nehlin JO, Brosh R, Orren DK, Bohr VA, The Werner syndrome protein is involved in RNA polymerase II transcription. Mol Biol Cell10:2655-68 1999
PubMed ID: 10436020
 
Marciniak RA, Lombard DB, Johnson FB, Guarente L, Nucleolar localization of the Werner syndrome protein in human cells. Proc Natl Acad Sci U S A95(12):6887-92 1998
PubMed ID: 9618508
 
Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YH, Mulligan J, Martin GM, Schellenberg GD, Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. Am J Hum Genet60(2):330-41 1997
PubMed ID: 9012406

External Links

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dbSNP dbSNP ID: 10074
Gene Cards RECQL2
WRN
Gene Ontology GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006259 DNA metabolism
GO:0007568 aging
GO:0008026 ATP-dependent helicase activity
GO:0008408 3'-5' exonuclease activity
GO:0016787 hydrolase activity
NCBI Gene Gene ID:7486
NCBI GTR 277700 WERNER SYNDROME; WRN
604611 RECQ PROTEIN-LIKE 2; RECQL2
OMIM 277700 WERNER SYNDROME; WRN
604611 RECQ PROTEIN-LIKE 2; RECQL2
Omim Description WERNER SYNDROME; WRNREPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED

Culture Protocols

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Split Ratio 1:4
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 -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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