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GM03379 Fibroblast

Description:

XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
POLYMERASE, DNA, ETA; POLH

Affected:

Yes

Sex:

Female

Age:

86 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 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP5MA; "pigmented xerodermoid"; XP variant; apparently normal excision repair and a hypersensitive response of semiconservative DNA replication to UV damage; 3 similarly affected sibs; donor subject is homozygous for a 104 bp deletion at nucleotides 661_764 of the POLH gene (661_764del) resulting in a frameshift at Lys220 [Lys220fs]

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene POLH
Chromosomal Location 6p21.1-p12
Allelic Variant 1 603968.0009; XERODERMA PIGMENTOSUM, VARIANT TYPE
Identified Mutation 104 BP DEL, NT661
 
Gene POLH
Chromosomal Location 6p21.1-p12
Allelic Variant 2 603968.0009; XERODERMA PIGMENTOSUM, VARIANT TYPE
Identified Mutation 104 BP DEL, NT661

Phenotypic Data

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Remarks XP5MA; "pigmented xerodermoid"; XP variant; apparently normal excision repair and a hypersensitive response of semiconservative DNA replication to UV damage; 3 similarly affected sibs; donor subject is homozygous for a 104 bp deletion at nucleotides 661_764 of the POLH gene (661_764del) resulting in a frameshift at Lys220 [Lys220fs]

Publications

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Auclair Y, Rouget R, Belisle JM, Costantino S, Drobetsky EA, Requirement for functional DNA polymerase eta in genome-wide repair of UV-induced DNA damage during S phase DNA repair9:754-64 2010
PubMed ID: 20457011
 
Cleaver JE, Afzal V, Feeney L, McDowell M, Sadinski W, Volpe JP, Busch DB, Coleman DM, Ziffer DW, Yu Y, Nagasawa H, Little JB, Increased ultraviolet sensitivity and chromosomal instability related to P53 function in the xeroderma pigmentosum variant. Cancer Res59(5):1102-8 1999
PubMed ID: 10070969
 
Johnson RE, Kondratick CM, Prakash S, Prakash L, hRAD30 mutations in the variant form of xeroderma pigmentosum. Science285(5425):1102-8 1999
PubMed ID: 10398605
 
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, Sensitivity of excision repair in normal human, xeroderma pigmentosum variant and Cockayne's syndrome fibroblasts to inhibition by cytosine arabinoside. J Cell Physiol108:163-73 1981
PubMed ID: 7263770
 
Cleaver JE, Greene AE, Coriell LL, Mulivor RA, Xeroderma pigmentosum variants. Cytogenet Cell Genet31:188-92 1981
PubMed ID: 7326997
 
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
 
Hofmann H, Jung EG, Schnyder UW, Pigmented Xerodermoid: first report of a family. Bull Cancer65:347-50 1978
PubMed ID: 719186

External Links

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dbSNP dbSNP ID: 20004
Gene Cards POLH
Gene Ontology GO:0003684 damaged DNA binding
GO:0005654 nucleoplasm
GO:0006282 regulation of DNA repair
GO:0015999 eta DNA polymerase activity
NCBI Gene Gene ID:5429
NCBI GTR 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
603968 POLYMERASE, DNA, ETA; POLH
OMIM 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
603968 POLYMERASE, DNA, ETA; POLH
Omim Description PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS
  XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES
  XERODERMA PIGMENTOSUM, VARIANT TYPE

Images

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View pedigree 

Culture Protocols

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Passage Frozen 2
Split Ratio 1:3
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
Supplement -
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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