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
NA15753 DNA from Fibroblast

Description:

TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Uncertain Biochemical Etiology
Class Repair Defective and Chromosomal Instability Syndromes
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Cpd heterozygote; one allele carries a C>T transition at nucleotide 2242 resulting in Arg722Trp (R722W); 2nd allele carries G>C transversion at nucleotide 1925 resulting in Arg616Pro (R616P) in the ERCC2 gene

Characterizations

back to top
Passage Frozen 10
 
Gene ERCC2
Chromosomal Location 19q13.2-q13.3
Allelic Variant 1 R722W; TRICHOTHIODYSTROPHY
Identified Mutation ARG722TRP; Compound heterozygote for mutations in the ERCC2 gene: one allele carries a C>T transition at nucleotide 2242 resulting in the substitution of tryptophan for arginine [Arg722Trp (R722W)].
 
Gene ERCC2
Chromosomal Location 19q13.2-q13.3
Allelic Variant 2 R616P; TRICHOTHIODYSTROPHY
Identified Mutation ARG616PRO; Compound heterozygote for mutations in the ERCC2 gene: one allele carries G>C transversion at nucleotide 1925 resulting in the substitution of proline for arginine [Arg616Pro (R616P)].

Phenotypic Data

back to top
Remarks Cpd heterozygote; one allele carries a C>T transition at nucleotide 2242 resulting in Arg722Trp (R722W); 2nd allele carries G>C transversion at nucleotide 1925 resulting in Arg616Pro (R616P) in the ERCC2 gene

Publications

back to top
Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019
PubMed ID: 31499327
 
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
 
Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR, Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A94(16):8658-63 1997
PubMed ID: 9238033
 
Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR, Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet7:189-94 1994
PubMed ID: 7920640
 
Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A, Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis14:1101-5 1993
PubMed ID: 8508495

External Links

back to top
dbSNP dbSNP ID: 18162
Gene Cards ERCC2
Gene Ontology GO:0000287 magnesium ion binding
GO:0003677 DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005675 transcription factor TFIIH complex
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006355 regulation of transcription, DNA-dependent
GO:0006366 transcription from Pol II promoter
GO:0006917 induction of apoptosis
GO:0007605 perception of sound
GO:0016787 hydrolase activity
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0043139 5' to 3' DNA helicase activity
NCBI Gene Gene ID:2068
Gene ID:7269
NCBI GTR 126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
OMIM 126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
Omim Description IBIDS SYNDROME, INCLUDED
  ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED
  TAY SYNDROME, INCLUDED
  TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED
  TRICHOTHIODYSTROPHY; TTDICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTHRETARDATION, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM15753 - Fibroblast
Miscellaneous
  • 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