NG01951
DNA from Fibroblast
Description:
XERODERMA PIGMENTOSUM: COMPLEMENTATION GROUP UNDETERMINED
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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
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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,XY,t(17;20)(17pter>17q25::20q131> 20qter;20pter>20q131::17q25>17qter)
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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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| Remarks |
The donor (from USSR) had mild but typical skin defects of XP and normal mental status. The cell morphology is fibroblast-like. The karyotype is 46,XY,t(17;20)(17pter>17q25::20q131>20qter;20pter>20q131::17q25>17qter). The culture is frozen at passage 12 and PDL is not known. The culture is line LHC638. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Mohandas T, Sparkes RS, Suh EJ, Hershfield MS, Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20. Hum Genet66:292-5 1984 |
| PubMed ID: 6586634 |
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