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GM02359 Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

25 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 White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Variant; DNA excision repair is normal; DNA post-replication repair is abnormal; Iranian; XP115LO; same patient as GM02111; parents are first cousins; donor subject is homozygous for a C>T transition at nucleotide 1117 of the POLH gene (1117C>T) resulting in the substitution of a premature termination codon for valine at codon 372 [Val372Ter (V372X)]

Characterizations

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Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene POLH
Chromosomal Location 6p21.1-p12
Allelic Variant 1 603968.0007; XERODERMA PIGMENTOSUM, VARIANT TYPE
Identified Mutation VAL372TER
 
Gene POLH
Chromosomal Location 6p21.1-p12
Allelic Variant 2 603968.0007; XERODERMA PIGMENTOSUM, VARIANT TYPE
Identified Mutation VAL372TER

Phenotypic Data

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Remarks Variant; DNA excision repair is normal; DNA post-replication repair is abnormal; Iranian; XP115LO; same patient as GM02111; parents are first cousins; donor subject is homozygous for a C>T transition at nucleotide 1117 of the POLH gene (1117C>T) resulting in the substitution of a premature termination codon for valine at codon 372 [Val372Ter (V372X)]

Publications

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Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019
PubMed ID: 31499327
 
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
 
Liu G, Chen X, DNA polymerase eta, the product of the xeroderma pigmentosum variant gene and a target of p53, modulates the DNA damage checkpoint and p53 activation Molecular and cellular biology26:1398-413 2006
PubMed ID: 16449651
 
Yamada K, Takezawa J, Ezaki O, Translesion replication in cisplatin-treated xeroderma pigmentosum variant cells is also caffeine-sensitive: features of the error-prone DNA polymerase(s) involved in UV-mutagenesis. DNA Repair (Amst)2(8):909-24 2003
PubMed ID: 12893087
 
Cordeiro-Stone M, Frank A, Bryant M, Oguejiofor I, Hatch SB, McDaniel LD, Kaufmann WK, DNA damage responses protect xeroderma pigmentosum variant from UVC-induced clastogenesis. Carcinogenesis23(6):959-65 2002
PubMed ID: 12082017
 
Ouellette MM, McDaniel LD, Wright WE, Shay JW, Schultz RA, The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes. Hum Mol Genet9(3):403-11 2000
PubMed ID: 10655550
 
Johnson RE, Kondratick CM, Prakash S, Prakash L, hRAD30 mutations in the variant form of xeroderma pigmentosum. Science285(5425):403-11 1999
PubMed ID: 10398605
 
Reardon JT, Mu D, Sancar A, Overproduction, purification, and characterization of the XPC subunit of the human DNA repair excision nuclease. J Biol Chem271:19451-6 1996
PubMed ID: 8702634
 
Boothman DA, Bouvard I, Hughes EN, Identification and characterization of X-ray-induced proteins in human cells. Cancer Res49:2871-8 1989
PubMed ID: 2720648
 
Barbis DP, Schultz RA, Friedberg EC, Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum. Mutat Res165:175-84 1986
PubMed ID: 3010096
 
Boorstein RJ, Pardee AB, Factors modifying 3-aminobenzamide cytotoxicity in normal and repair- deficient human fibroblasts. J Cell Physiol120:335-44 1984
PubMed ID: 6746752
 
Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983
PubMed ID: 6300669
 
Cleaver JE, Inactivation of ultraviolet repair in normal and xeroderma pigmentosum cells by methyl methanesulfonate. Cancer Res42:860-3 1982
PubMed ID: 7059984
 
Cleaver JE, Greene AE, Coriell LL, Mulivor RA, Xeroderma pigmentosum variants. Cytogenet Cell Genet31:188-92 1981
PubMed ID: 7326997
 
Cleaver, Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants. Carcinogenesis1:647 (1980):188-92 1980
PubMed ID: 7326997
 
Pawsey SA, Magnus IA, Ramsay CA, Benson PF, Giannelli F, Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. Q J Med48:179-210 1979
PubMed ID: 504548

External Links

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dbSNP dbSNP ID: 14039
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

Culture Protocols

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Passage Frozen 6
Split Ratio 1:5
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
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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