NA00492
DNA from Fibroblast
Description:
INCONTINENTIA PIGMENTI; IP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
10 µg |
| 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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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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ISCN
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46,XX
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Typical skin lesions appeared shortly after birth; 88% of fibroblasts are 46, XX, 10% show random chromosome loss, and 1 cell out of 50 showed t(12;14); this cell line is no more sensitive to gamma-irradiation than controls |
| Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484: 1979 |
| PubMed ID: |
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