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NG08802 DNA from LCL

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

Affected:

Yes

Sex:

Male

Age:

1 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Class Repair Defective and Chromosomal Instability Syndromes
Quantity 10ug
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks XP20BE; the donor has been diagnosed as having Xeroderma pigmentosum as well as Cockayne syndrome. He displays clinical features of sun sensitivity, freckling, atrophy, depigmentation of facial skin, photophobia, microcephaly, mental retardation, short stature, impaired hearing, spasticity, and increased reflexes. The culture was initiated on 5/15/86 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. A skin fibroblast culture from same donor is AG08803.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks XP20BE; the donor has been diagnosed as having Xeroderma pigmentosum as well as Cockayne syndrome. He displays clinical features of sun sensitivity, freckling, atrophy, depigmentation of facial skin, photophobia, microcephaly, mental retardation, short stature, impaired hearing, spasticity, and increased reflexes. The culture was initiated on 5/15/86 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. A skin fibroblast culture from same donor is AG08803.

Publications

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Panigrahi GB, Lau R, Montgomery SE, Leonard MR, Pearson CE, Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair Nature structural & molecular biology12:654-62 2005
PubMed ID: 16025129
 
McCulloch SD, Gu L, Li GM, Nick-dependent and -independent processing of large DNA loops in human cells. J Biol Chem278(50):50803-9 2003
PubMed ID: 14522965
 
Bowman KK, Smith CA, Hanawalt PC, Excision-repair patch lengths are similar for transcription-coupled repair and global genome repair in UV-irradiated human cells. Mutat Res385(2):95-105 1997
PubMed ID: 9447231
 
Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol107(4):647-53 1996
PubMed ID: 8823375
 
Matsunaga T, Mu D, Park CH, Reardon JT, Sancar A, Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. J Biol Chem270:20862-9 1995
PubMed ID: 7657672

External Links

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dbSNP dbSNP ID: 10192
NCBI GTR 278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
OMIM 278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
Omim Description XERODERMA PIGMENTOSUM VII
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
  XP, GROUP G; XPG
  XP7
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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