Description:
PROGERIA, ADULT ONSET
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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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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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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 |
Adult onset. Donor has an affected mother, a deceased affected grandmother, and three affected daughters. Inheritance pattern appears to be autosomal dominant. In a photograph of grandmother at age 45 she appeared 80 years old with completely white hair, bifocals, and moderate obesity. She died at 53 of cardiomyopathy. Donor has diabetes, severe myopathy, neuropathy, history of cardiomyopathy, elevated creatine phosphokinase, lactate, & glucose levels and decreased oxidative function. A muscle biopsy and mitochondrial mutation studies showed no mtDNA deletions or point mutations. The culture was initiated on 9/4/98 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XY with 4% of the cells examined showing random chromosome loss/gain. Lymphoblast cultures from this donor's affected daughters are AG15694 and AG15695. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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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