Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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| 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 |
Donor had features of diabetes, juvenile cataracts, short stature, gray hair, loss of subcutaneous fat, atrophy and ulceration of skin, highpitched voice and evidence of progeria. The family history is negative for Werner syndrome, diabetes and cataracts. The culture was initiated on 6/1/79 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. |
| Heyn H, Moran S, Esteller M, Aberrant DNA methylation profiles in the premature aging disorders Hutchinson-Gilford Progeria and Werner syndrome. Epigenetics8(1):28-33 2013 |
| PubMed ID: 23257959 |
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| Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004 |
| PubMed ID: 15060110 |
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| Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J,
Ogihara T, Ells J, Smith M, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J,
Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM, Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet5(12):1909-13 1996 |
| PubMed ID: 8968742 |
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| Brown WT, Darlington GJ, Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. Am J Hum Genet32:614-9 1980 |
| PubMed ID: 6930821 |
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