NA02998
DNA from Fibroblast
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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 |
GM17379 [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC] |
Quantity |
0.050mg |
Quantitation Method |
Please see our FAQ |
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
|
Ethnicity
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EGYPTIAN
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Family Member
|
2
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Relation to Proband
|
mother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
|
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 Isoenzyme Electrophoresis |
|
Remarks |
Egyptian; XPH4CA; clinically unaffected |
Hashem N, Bootsma D, Keijzer W, Greene A, Coriell L, Thomas G, Cleaver JE, Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt. Cancer Res40:13-8 1980 |
PubMed ID: 7349892 |
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