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
AG06300 Fibroblast from Skin, Arm

Description:

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

Affected:

Yes

Sex:

Male

Age:

37 YR (At Sampling)

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

Overview

back to top
Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XY,t(7;11)(11qter->11q23::7p22->7qter;11pter->11q23::7p22->7pter)[11]/46,XY[20].arr(1-22)x2,(X,Y)x1
Species Homo sapiens
Common Name Human
Remarks The donor developed rapid onset of aging beginning at age 35 years including the development of fine, gray hair, muscle wasting, wrinkling of skin, dystrophic nails, high-pitched voice, hypogonadism and a general aged appearance. The family history is negative, although a sister has developed thin arms and legs. The biopsy was taken ante-mortem on 10/25/76 from skin of the anterior forearm. The culture was initiated using explants of minced tissue. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XY/46,XY,t(7;11)(7qter>7p22::11q23>11qter;11pter>11q23:: 7p22>7pter), balanced; 88%/12%. Maximum lifespan is 35 to 40 PD. Cell line contains the following polymorphism: a leucine for phenylalanine replacement at amino acid 1074 of the WRN protein {PHE1074LEU(F1074L)}. The protein is wild type. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

back to top
PDL at Freeze 5.16
Passage Frozen 3
 
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

Phenotypic Data

back to top
Remarks The donor developed rapid onset of aging beginning at age 35 years including the development of fine, gray hair, muscle wasting, wrinkling of skin, dystrophic nails, high-pitched voice, hypogonadism and a general aged appearance. The family history is negative, although a sister has developed thin arms and legs. The biopsy was taken ante-mortem on 10/25/76 from skin of the anterior forearm. The culture was initiated using explants of minced tissue. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XY/46,XY,t(7;11)(7qter>7p22::11q23>11qter;11pter>11q23:: 7p22>7pter), balanced; 88%/12%. Maximum lifespan is 35 to 40 PD. Cell line contains the following polymorphism: a leucine for phenylalanine replacement at amino acid 1074 of the WRN protein {PHE1074LEU(F1074L)}. The protein is wild type. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

back to top
Della Valle F, Reddy P, Yamamoto M, Liu P, Saera-Vila A, Bensaddek D, Zhang H, Prieto Martinez J, Abassi L, Celii M, Ocampo A, Nuñez Delicado E, Mangiavacchi A, Aiese Cigliano R, Rodriguez Esteban C, Horvath S, Izpisua Belmonte JC, Orlando V, LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes Science translational medicine14:eabl6057 2022
PubMed ID: 35947677
 
Hartmann C, Herling L, Hartmann A, Köckritz V, Fuellen G, Walter M, Hermann A, Systematic estimation of biological age of Frontiers in aging4:1129107 2022
PubMed ID: 36873743
 
Wang S, Liu Z, Ye Y, Li B, Liu T, Zhang W, Liu GH, Zhang YA, Qu J, Xu D, Chen Z, Ectopic hTERT expression facilitates reprograming of fibroblasts derived from patients with Werner syndrome as a WS cellular model Cell death & disease9:923 2017
PubMed ID: 30206203
 
Kyng KJ, May A, Stevnsner T, Becker KG, Kølvrå S, Bohr VA, Gene expression responses to DNA damage are altered in human aging and in Werner Syndrome Oncogene24:5026-42 2005
PubMed ID: 15897889
 
Kyng KJ, May A, Kolvraa S, Bohr VA, Gene expression profiling in Werner syndrome closely resembles that of normal aging. Proc Natl Acad Sci U S A100(21):12259-64 2003
PubMed ID: 14527998
 
Blander G, Zalle N, Leal JF, Bar-Or RL, Yu CE, Oren M, The Werner syndrome protein contributes to induction of p53 by DNA damage. FASEB J14(14):2138-40 2000
PubMed ID: 11023999
 
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
 
Dimri GP, Lee X, Basile G, Acosta M, Scott G, Roskelley C, Medrano EE, Linskens M, Rubelj I, Pereira-Smith O, et al, A biomarker that identifies senescent human cells in culture and in aging skin in vivo. Proc Natl Acad Sci U S A92:9363-7 1995
PubMed ID: 7568133
 
Cowles EA, Brauker JH, Anderson RL, Turnover of sulfated glycosaminoglycans in fibroblasts derived from patients with Werner's syndrome. Exp Cell Res168:347-57 1987
PubMed ID: 3100317
 
Harley CB, Pollard JW, Chamberlain JW, Stanners CP, Goldstein S, Protein synthetic errors do not increase during aging of cultured human fibroblasts. Proc Natl Acad Sci U S A77:1885-9 1980
PubMed ID: 6246512

External Links

back to top
dbSNP dbSNP ID: 10117
Gene Cards RECQL2
GEO GEO Accession No: GSM1184270
GEO Accession No: GSM1184271
GEO Accession No: GSM1184286
GEO Accession No: GSM1184287
NCBI GTR 277700 WERNER SYNDROME; WRN
OMIM 277700 WERNER SYNDROME; WRN
Omim Description WERNER SYNDROME; WRNREPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED

Culture Protocols

back to top
Passage Frozen 3
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • NG06300 - DNA
DNA Panels
  • AGPAGSYN
  • AGPCHMUT
Miscellaneous
  • DNA on Demand
  • 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