NA03379
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 1 |
603968.0009; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
104 BP DEL, NT661 |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
603968.0009; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
104 BP DEL, NT661 |
| 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] |
| 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 |
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| 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 |
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| 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 |
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| Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984 |
| PubMed ID: 6492896 |
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| 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 |
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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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| 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 |
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| 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 |
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| Hofmann H, Jung EG, Schnyder UW, Pigmented Xerodermoid: first report of a family. Bull Cancer65:347-50 1978 |
| PubMed ID: 719186 |
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