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
GM15716 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

10 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity TURKISH
Family Member 2
Relation to Proband sister
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP101TMA; Turkish; clinically affected; squamous cell carcinomas; malignant lentigo; affected brother is GM15710; see GM15715 Fibro; skin legions onset at age 3 yrs; atrophy; telangiectasias; actinic keratosis; hypopigmentation; consanguinitity; donor subject is homozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

Characterizations

back to top
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene XPC
Chromosomal Location 3p25
Allelic Variant 1 613208.0008; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Identified Mutation IVS3AS,T>A,-9; In 2 sibs with xeroderma pigmentosum and multiple skin cancers from a consanguineous Turkish family, Khan et al. (Hum Molec Genet 13(3):343-352, 2004) identified homozygosity for a -9T-A transversion in intron 3 of the XPC gene. The mutation was located in a splice lariat branchpoint sequence. PCR analysis of fibroblast cells detected an XPC mRNA isoform with deletion of exon 4 that had no DNA repair activity in a post-UV host cell reactivation assay.
 
Gene XPC
Chromosomal Location 3p25
Allelic Variant 2 613208.0008; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Identified Mutation IVS3AS,T>A,-9; In 2 sibs with xeroderma pigmentosum and multiple skin cancers from a consanguineous Turkish family, Khan et al. (Hum Molec Genet 13(3):343-352, 2004) identified homozygosity for a -9T-A transversion in intron 3 of the XPC gene. The mutation was located in a splice lariat branchpoint sequence. PCR analysis of fibroblast cells detected an XPC mRNA isoform with deletion of exon 4 that had no DNA repair activity in a post-UV host cell reactivation assay.

Phenotypic Data

back to top
Remarks XP101TMA; Turkish; clinically affected; squamous cell carcinomas; malignant lentigo; affected brother is GM15710; see GM15715 Fibro; skin legions onset at age 3 yrs; atrophy; telangiectasias; actinic keratosis; hypopigmentation; consanguinitity; donor subject is homozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

Publications

back to top
Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, Digiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH, Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis27(1):84-94 2005
PubMed ID: 16081512
 
Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH, Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet13(3):343-52 2003
PubMed ID: 14662655

External Links

back to top
dbSNP dbSNP ID: 15449
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

Culture Protocols

back to top
Split Ratio 1:5
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
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
  • 1831
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