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NG07896 DNA from LCL

Description:

WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

Affected:

Yes

Sex:

Female

Age:

57 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Quantity 10ug
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks The affected donor had features of short stature, thin skin, flat feet, increased serum triglycerides, baldness and juvenile cataracts. Her unaffected parents are first cousins and the family history is negative. The culture was initiated on 9/18/84. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XX; normal diploid female. This cell line contains two polymorphisms: a leucine for phenylalanine replacement at amino acid 1074 of the WRN protein {PHE1074LEU(F1074L)} and an arginine for cysteine substitution at amino acid 1367 {CYS1367ARG (C1367R)}. The protein is wild type. 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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Gene RECQL2
Chromosomal Location 8p12-p11.2
Allelic Variant 1 F1074L; WERNER SYNDROME
Identified Mutation PHE1074LEU
 
Gene RECQL2
Chromosomal Location 8p12-p11.2
Allelic Variant 2 C1367R; WERNER SYNDROME
Identified Mutation CYS1367ARG

Phenotypic Data

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Remarks The affected donor had features of short stature, thin skin, flat feet, increased serum triglycerides, baldness and juvenile cataracts. Her unaffected parents are first cousins and the family history is negative. The culture was initiated on 9/18/84. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XX; normal diploid female. This cell line contains two polymorphisms: a leucine for phenylalanine replacement at amino acid 1074 of the WRN protein {PHE1074LEU(F1074L)} and an arginine for cysteine substitution at amino acid 1367 {CYS1367ARG (C1367R)}. The protein is wild type. 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
 
Heyn H, Moran S, Esteller M, Aberrant DNA methylation profiles in the premature aging disorders Hutchinson-Gilford Progeria and Werner syndrome. Epigenetics8(1):28-33 2013
PubMed ID: 23257959
 
Caburet S, Conti C, Schurra C, Lebofsky R, Edelstein SJ, Bensimon A, Human ribosomal RNA gene arrays display a broad range of palindromic structures Genome research15:1079-85 2005
PubMed ID: 16024823
 
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

External Links

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dbSNP dbSNP ID: 10161
Gene Cards RECQL2
NCBI GTR 277700 WERNER SYNDROME; WRN
OMIM 277700 WERNER SYNDROME; WRN
Omim Description WERNER SYNDROME; WRNREPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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