AG15695
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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Family Member
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3
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Relation to Proband
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daughter
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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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 father, paternal grandmother, and 2 affected sisters. Donor has fatigue, muscle cramps, elevated creatine phosphokinase, lactate, & glucose levels and decreased oxidative function. 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,XX with 6% of the cells examined showing random chromosome gain and 2% showing random chromsomal aberrations. A lymphoblast culture from this donor's affected father is AG15693 and donor's affected sister is AG15694. 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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