NG05139
DNA from Fibroblast
Description:
ROTHMUND-THOMSON SYNDROME; RTS
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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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Sacrum
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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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Family Member
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1
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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
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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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| PDL at Freeze |
9 |
| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
The donor had features of short stature; mental retardation; reticular, pigmented and depigmented atrophic skin lesions; alopecia; cataracts and dystrophic nails. The family history is negative. The biopsy was taken ante-mortem on 8/12/81 from skin of the right sacral area. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. A lymphoblast culture from same donor is AG05140B. |
| Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y, Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet22:82-4 1999 |
| PubMed ID: 10319867 |
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