NG08527
DNA from Fibroblast
Description:
ALZHEIMER DISEASE; AD
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
German Alzheimer Disease |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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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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Ethnicity
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GERMAN
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Family Member
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19
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Relation to Proband
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V-31
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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 |
3.86 |
| Passage Frozen |
10 |
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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 |
This donor was initially diagnosed as Parkinson's disease because he exhibited a slowing of movements. Within 1 year he developed problems with attention span and memory. Further progression of intellectual impairment necessitated assistance with all activities of daily living. Treatment with anti-Parkinsonian medications did not help motor or intellectual function. EEG revealed general slowing. CSF exam was remarkable for an increase in protein concentration. CT scan demonstrated widened sulci and ventricular dilatation. Autopsy confirmed Alzheimer's disease. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 11/06/85 using explants of minced skin. The cell morphology is fibroblastlike. The culture is a mosaic with karyotype: 46,XY/46,X,-Y,+mar/46,XY, t(2;3)(2pter>2q37::3q21>3qter;3pter>3q21::2q37>2qter); unbalanced; 82%/ 15%/3%. Marker is heterochromatin positive. Culture was frozen at PDL 10. A lymphoblast culture from same donor is AG08526. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Iannuzzi F, Frisardi V, Annunziato L, Matrone C, Might Fibroblasts from Patients with Alzheimer's Disease Reflect the Brain Pathology? A Focus on the Increased Phosphorylation of Amyloid Precursor Protein Tyr Brain sciences11: 2020 |
| PubMed ID: 33466666 |
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| Joshi AU, Van Wassenhove LD, Logas KR, Minhas PS, Andreasson KI, Weinberg KI, Chen CH, Mochly-Rosen D, Aldehyde dehydrogenase 2 activity and aldehydic load contribute to neuroinflammation and Alzheimer's disease related pathology Acta neuropathologica communications7:190 2019 |
| PubMed ID: 31829281 |
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| Favit A, Grimaldi M, Nelson TJ, Alkon DL, Alzheimer's-specific effects of soluble beta-amyloid on protein kinase C-alpha and -gamma degradation in human fibroblasts. Proc Natl Acad Sci U S A95(10):5562-7 1998 |
| PubMed ID: 9576922 |
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| Hirashima N, Etcheberrigaray R, Bergamaschi S, Racchi M, Battaini F, Binetti G, Govoni S, Alkon DL, Calcium responses in human fibroblasts: a diagnostic molecular profile for Alzheimer's disease [see comments] Neurobiol Aging17:549-55 1996 |
| PubMed ID: 8832629 |
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| Kim CS, Han YF, Etcheberrigaray R, Nelson TJ, Olds JL, Yoshioka T, Alkon DL, Alzheimer and beta-amyloid-treated fibroblasts demonstrate a decrease in a memory-associated GTP-binding protein, Cp20. Proc Natl Acad Sci U S A92:3060-4 1995 |
| PubMed ID: 7708775 |
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| Frommelt P, Schnabel R, Kuhne W, Nee LE, Polinsky RJ, Familial Alzheimer disease: a large, multigeneration German kindred. Alzheimer Dis Assoc Disord5:36-43 1991 |
| PubMed ID: 2025423 |
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| St George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D, et al, The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science235:885-90 1987 |
| PubMed ID: 2880399 |
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