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GM10428 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

Affected:

Yes

Sex:

Male

Age:

14 YR (At Sampling)

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

Overview

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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 Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP17BE; 25% of normal UV induced unscheduled DNA synthesis; see GM02253E Lymphoid; typical skin and neurologic abnormalities; onset at about age 10; significantly lower than normal colony forming ability post UV irradiation

Characterizations

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PDL at Freeze 6.22
Passage Frozen 15
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene ERCC2
Chromosomal Location 19q13.2-q13.3
Allelic Variant 1 126340.0009; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
Identified Mutation ASP681ASN
 
Gene ERCC2
Chromosomal Location 19q13.2-q13.3
Allelic Variant 2 126340.0015; XERODERMA PIGMENTOSUM, TYPE D
Identified Mutation ARG683TRP

Phenotypic Data

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Remarks XP17BE; 25% of normal UV induced unscheduled DNA synthesis; see GM02253E Lymphoid; typical skin and neurologic abnormalities; onset at about age 10; significantly lower than normal colony forming ability post UV irradiation

Publications

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Zhu Q, Wani G, Sharma N, Wani A, Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair DNA repair11:942-50 2012
PubMed ID: 23083890
 
Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH, Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs non-cancer-prone trichothiodystrophy Human mutation29:1194-208 2008
PubMed ID: 18470933
 
Tu Y, Bates S, Pfeifer GP, Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. J Biol Chem272:20747-55 1997
PubMed ID: 9252397
 
Johnson RT, Squires S, The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res273(2):97-118 1992
PubMed ID: 1372108
 
Andrews AD, Barrett SF, Robbins JH, Xeroderma pigmentosum neurological abnormalities correlate with colony- forming ability after ultraviolet radiation. Proc Natl Acad Sci U S A75:1984-8 1978
PubMed ID: 273925
 
Andrews AD, Barrett SF, Robbins JH, Xeroderma pigmentosum neurological abnormalities correlate with colony- forming ability after ultraviolet radiation. Proc Natl Acad Sci U S A75:1984-8 1978
PubMed ID: 23232694

External Links

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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
NCBI GTR 126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
OMIM 126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
Omim Description TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED
  XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED
  XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
  XP, GROUP D; XPDC
  XP, GROUP H, FORMERLY; XPH, FORMERLY

Culture Protocols

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Passage Frozen 15
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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