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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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 1 |
603968.0010; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
1 BP DEL, 207G |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
603968.0011; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
3 BP DEL, NT222 |
| Remarks |
XP6DU; variant; clinically affected; donor subject is a compound heterozygote: one allele has a deletion of a G at nucleotide 207 of the POLH gene (207delG) resulting in a frameshift at K69 [Lys69fs]; the second allele has a 3 bp in frame deletion at nucleotides 222_224 of the POLH gene (222_224del) resulting in a deletion of Leu at codon 75 [delLeu75] |
| Avkin S, Adar S, Blander G, Livneh Z, Quantitative measurement of translesion replication in human cells: evidence for bypass of abasic sites by a replicative DNA polymerase. Proc Natl Acad Sci U S A99(6):3764-9 2002 |
| PubMed ID: 11891323 |
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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, 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 |
| Passage Frozen |
7 |
| 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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