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
GM00671 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC

Affected:

Yes

Sex:

Male

Age:

15 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Class Repair Defective and Chromosomal Instability Syndromes
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP8BE; ATCC CRL 1158; 10-20% of normal UV induced unscheduled DNA synthesis; see GM02249 (lymphoblastoid); similarly affected twin and 2 brothers; no neurological abnormalities; the donor subject carries two mutations in the XPC gene: one results in the insertion of a valine residue after valine at codon 580, while the other is a point mutation that created a nonconservative amino acid change near the carboxyl terminus of the protein. The cell line is either homozygous or hemizygous for these mutations.

Characterizations

back to top
Passage Frozen 7
 
Gene XPC
Chromosomal Location 3p25
Allelic Variant 1 613208.0003; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Identified Mutation 3-BP INS, GGT, CODON 580 AND LYS822GLN; In cell line XP8BE-L1, Li et al. [Nature Genet. 5: 413-417, (1993)] identified 2 mutations: one resulted in the insertion of a valine residue after valine at codon 580, while the other was a point mutation that created a nonconservative amino acid change near the carboxyl terminus of the protein. It could not be determined whether only one or both of these mutations was responsible for the observed repair deficiency. The cell line was either homozygous or hemizygous for these mutations.

Phenotypic Data

back to top
Remarks XP8BE; ATCC CRL 1158; 10-20% of normal UV induced unscheduled DNA synthesis; see GM02249 (lymphoblastoid); similarly affected twin and 2 brothers; no neurological abnormalities; the donor subject carries two mutations in the XPC gene: one results in the insertion of a valine residue after valine at codon 580, while the other is a point mutation that created a nonconservative amino acid change near the carboxyl terminus of the protein. The cell line is either homozygous or hemizygous for these mutations.

Publications

back to top
Wang G, Chuang L, Zhang X, Colton S, Dombkowski A, Reiners J, Diakiw A, Xu XS, The initiative role of XPC protein in cisplatin DNA damaging treatment-mediated cell cycle regulation. Nucleic Acids Res32(7):2231-40 2004
PubMed ID: 15107491
 
Rubbi CP, Milner J, Analysis of nucleotide excision repair by detection of single-stranded DNA transients. Carcinogenesis22(11):1789-96 2001
PubMed ID: 11698340
 
Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999
PubMed ID: 10447254
 
Ratner JN, Balasubramanian B, Corden J, Warren SL, Bregman DB, Ultraviolet radiation-induced ubiquitination and proteasomal degradation of the large subunit of RNA polymerase II. Implications for transcription-coupled DNA repair. J Biol Chem273(9):5184-9 1998
PubMed ID: 9478972
 
Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC, Warren SL, UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. Proc Natl Acad Sci U S A93:11586-90 1996
PubMed ID: 8876179
 
Yanagisawa J, Seki M, Ui M, Enomoto T, Alteration of a DNA-dependent ATPase activity in xeroderma pigmentosum complementation group C cells. J Biol Chem267:3585-8 1992
PubMed ID: 1310977
 
Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984
PubMed ID: 6492896
 
Cleaver JE, Inactivation of ultraviolet repair in normal and xeroderma pigmentosum cells by methyl methanesulfonate. Cancer Res42:860-3 1982
PubMed ID: 7059984
 
Weichselbaum RR, Nove J, Little JB, Deficient recovery from potentially lethal radiation damage in ataxia telengiectasia and xeroderma pigmentosum. Nature271:261-2 1978
PubMed ID: 622166

External Links

back to top
dbSNP dbSNP ID: 13500
Gene Cards XPC
Gene Ontology GO:0003684 damaged DNA binding
GO:0003697 single-stranded DNA binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7508
NCBI GTR 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
613208 XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
OMIM 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
613208 XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
Omim Description XERODERMA PIGMENTOSUM III; XP3
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
  XP, GROUP C
  XPCC

Images

back to top
View pedigree 

Culture Protocols

back to top
Passage Frozen 7
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Family
  • 75
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