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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 1 |
603968.0007; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
VAL372TER |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
603968.0007; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
VAL372TER |
| 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)] |
| 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 |
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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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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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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| 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 |
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| Cleaver JE, Inactivation of ultraviolet repair in normal and xeroderma pigmentosum cells by methyl methanesulfonate. Cancer Res42:860-3 1982 |
| PubMed ID: 7059984 |
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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, 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 |
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| 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 |
| 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 |
- |
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