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GM02090 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA

Affected:

Yes

Sex:

Male

Age:

16 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
Alternate IDs GM17343 [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA]
Cell Type Fibroblast
Transformant Untransformed
Race Black/African American
Ethnicity AFRICAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP4JO; African; positive family history; blindness due to corneal opacity; skin shows areas of hypo- and hyperpigmentation but no malignancies; offspring of consanguineous parents; donor subject is homozygous G-to-A substitution at nucleotide 389 (389G>A) in exon 3 of the XPA gene which results in no splice site.

Characterizations

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Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 1 no splice site; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
Identified Mutation 389G>A
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 2 no splice site; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
Identified Mutation 389G>A

Phenotypic Data

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Remarks XP4JO; African; positive family history; blindness due to corneal opacity; skin shows areas of hypo- and hyperpigmentation but no malignancies; offspring of consanguineous parents; donor subject is homozygous G-to-A substitution at nucleotide 389 (389G>A) in exon 3 of the XPA gene which results in no splice site.

Publications

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Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H, Page DC, Rozen S, High mutation rates have driven extensive structural polymorphism among human Y chromosomes Nature genetics38:463-7 2005
PubMed ID: 16501575
 
States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat12:103-13 1998
PubMed ID: 9671271
 
Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y, Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res273:193-202 1992
PubMed ID: 1372102
 
Satokata I, Tanaka K, Yuba S, Okada Y, Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. Mutat Res273:203-12 1992
PubMed ID: 1372103
 
Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990
PubMed ID: 1702221
 
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, Zelle B, Hashem N, El-Hefnawi MH, German J, Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology. J Invest Dermatol77:96-101 1981
PubMed ID: 7252263
 
Cleaver, Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants. Carcinogenesis1:647 (1980):96-101 1980
PubMed ID: 7252263

External Links

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dbSNP dbSNP ID: 10484
Gene Cards XPA
Gene Ontology GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7507
NCBI GTR 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
OMIM 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
Omim Description XERODERMA PIGMENTOSUM I; XP1
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
  XP, GROUP A
  XPA COMPLEMENTING; XPAC
  XPA CORRECTING

Culture Protocols

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Passage Frozen 4
Split Ratio 1:5
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
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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