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GM01227 Fibroblast

Description:

XERODERMA PIGMENTOSUM: COMPLEMENTATION GROUP UNDETERMINED

Affected:

Yes

Sex:

Male

Age:

28 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
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Diagnosed at age 13; 30-60% of normal post UV light induced unscheduled DNA synthesis with normal strand incision

Characterizations

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Passage Frozen 3
 

Phenotypic Data

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Remarks Diagnosed at age 13; 30-60% of normal post UV light induced unscheduled DNA synthesis with normal strand incision

Publications

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Roth M, Muller H, Boyle JM, Immunochemical determination of an initial step in thymine dimer excision repair in xeroderma pigmentosum variant fibroblasts and biopsy material from the normal population and patients with basal cell carcinoma and melanoma. Carcinogenesis8:1301-7 1987
PubMed ID: 3304692
 
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
 
Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983
PubMed ID: 6196782
 
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 L, Riccardi VM, An autosomal dominant inheritance for multiple sunlight-induced malignancy in a patient without abnormalities in DNA repair or replication. Repository identification No. GM2881. Cytogenet Cell Genet29:122-4 1981
PubMed ID: 7471819
 
Cleaver JE, Greene AE, Coriell LL, Mulivor RA, Xeroderma pigmentosum variants. Cytogenet Cell Genet31:188-92 1981
PubMed ID: 7326997

External Links

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dbSNP dbSNP ID: 17100

Culture Protocols

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Passage Frozen 3
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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