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GM02010 Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • 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 White
Family Member 2
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP2PD; mental and growth retardation; photosensitivity; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 in exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; the second allele carries a G-to-T transversion at nucleotide 323 in exon 3 altering the Cys-108 codon (TGT) to a Phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein [Cys108Phe (C108F)].

Characterizations

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PDL at Freeze 6.7
Passage Frozen 12
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 1 278700.0003; XERODERMA PIGMENTOSUM, TYPE A
Identified Mutation 5BP DEL; Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found a 5-bp deletion (C349-T353) in exon 5 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination.
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 2 278700.0002; XERODERMA PIGMENTOSUM, TYPE A
Identified Mutation CYS108PHE; In the patient represented by the cell line GM02009, Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found compound heterozygosity for 2 mutations: a 5-bp deletion C349-T353) in exon 5 causing a frameshift that resulted in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; and a G-to-T transversion at nucleotide 323 altering the cys-108 codon (TGT) to a phe codon (TTT) that resulted in disruption of a putative zinc finger domain of the XPA protein.

Phenotypic Data

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Remarks XP2PD; mental and growth retardation; photosensitivity; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 in exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; the second allele carries a G-to-T transversion at nucleotide 323 in exon 3 altering the Cys-108 codon (TGT) to a Phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein [Cys108Phe (C108F)].

Publications

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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

External Links

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dbSNP dbSNP ID: 20225
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

Images

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View pedigree 

Culture Protocols

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Cumulative PDL at Freeze 15
Passage Frozen 12
Split Ratio 1:2
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 10% 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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