Description:
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
POLYMERASE, DNA, ETA; POLH
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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RUSSIAN/ARMENIAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
6 |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 1 |
603968.0006; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
VAL125TER |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
603968.0006; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
VAL125TER |
| Remarks |
XP1CH; 55% of normal unscheduled DNA synthesis with normal strand incision; parents are first cousins; similarly affected sib; donor subject is homozygous for a C>T transition at nucleotide 376 of the POLH gene (376C>T) resulting in the substitution of a premature termination codon for valine at codon 125 [Val125Ter (V125X)] |
| Johnson RE, Kondratick CM, Prakash S, Prakash L, hRAD30 mutations in the variant form of xeroderma pigmentosum. Science285(5425): 1999 |
| PubMed ID: 10398605 |
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| 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 |
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| Cleaver JE, Greene AE, Coriell LL, Mulivor RA, Xeroderma pigmentosum variants. Cytogenet Cell Genet31:188-92 1981 |
| PubMed ID: 7326997 |
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| Gruenert DC, Cleaver JE, Repair of ultraviolet damage in human cells also exposed to agents that cause strand breaks, crosslinks, monoadducts and alkylations. Chem Biol Interact33:163-77 1981 |
| PubMed ID: 7460065 |
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| Cleaver, Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants. Carcinogenesis1:647 (1980):163-77 1980 |
| PubMed ID: 7460065 |
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| Cleaver JE, Thomas GH, Park SD, Xeroderma pigmentosum variants have a slow recovery of DNA synthesis after irradiation with ultraviolet light. Biochim Biophys Acta564:122-31 1979 |
| PubMed ID: 534635 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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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