NG12800
DNA from Fibroblast
Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
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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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Thigh
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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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Asian
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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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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 |
4.64 |
| Passage Frozen |
8 |
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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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| Remarks |
The donor had features of short stature, gray hair, hyperpigmentation of skin, juvenile bilateral cataracts, atrophic skin and subcutaneous tissue, and hypogonadism. Diabetes was not detected at time of biopsy. The family history is negative and the parents are nonconsanguineous. The culture was initiated on 1/05/93 from primary cells which had been frozen. The cell morphology is fibroblast-like. Same donor as AG05229B. |
| Goto M, Tanimoto K, Horiuchi Y, Sasazuki T, Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet19:8-15 1981 |
| PubMed ID: 7460386 |
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