Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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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TURKISH
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Family Member
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4
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Relation to Proband
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sibling
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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 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 |
; XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV |
| Identified Mutation |
c.454C>T (p.Gln152Ter) |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
; XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV |
| Identified Mutation |
c.454C>T (p.Gln152Ter) |
| Remarks |
XP98TMA; Turkish; clinically affected; squamous cell carcinomas; affected sister is GM15697 and affected brother is GM14875; see GM15712 Lymph; skin legions onset at age 2 years; atrophy; telangiectasias; actinic keratosis; hypopigmentation; consanguinity |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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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