NA06090
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 |
| Alternate IDs |
GM17013 [XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV] |
| Quantity |
0.050mg |
| 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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Asian
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Ethnicity
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CHINESE
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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 |
10 |
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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 |
E22X; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
GLU22TER |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
E22X; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
GLU22TER |
| Remarks |
Chinese; XP1SF; skin hyperpigmentation and solar cancers on face; one similarly affected sib; abnormal DNA replication after UV irradiation; donor subject is homozygous for a C>T transition at nucleotide 67 of the POLH gene (67C>T) resulting in the substitution of a premature termination codon for glutamic acid at codon 22 [Glu22Ter (E22X)] |
| 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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