NG07621
DNA from Fibroblast
Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Canadian Alzheimer Disease |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
CANADIAN
|
|
Family Member
|
16
|
|
Relation to Proband
|
VII-50
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
10 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
The donor is an unaffected spouse of an Alzheimer's disease family member. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 08/16/84 using explants of minced skin. The cell morphology is fibroblast-like. Culture was frozen at PDL 10. A lymphoblast culture from same donor is AG07622A. Culture grows slowly. |
| Lee JH, Yu WH, Kumar A, Lee S, Mohan PS, Peterhoff CM, Wolfe DM, Martinez-Vicente M, Massey AC, Sovak G, Uchiyama Y, Westaway D, Cuervo AM, Nixon RA, Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations Cell141:1146-58 2008 |
| PubMed ID: 20541250 |
| |
| McCoy KR, Mullins RD, Newcomb TG, Ng GM, Pavlinkova G, Polinsky RJ, Nee LE, Sisken JE, Serum- and bradykinin-induced calcium transients in familial Alzheimer's fibroblasts. Neurobiol Aging14:447-55 1993 |
| PubMed ID: 8247227 |
| |
| 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 |
| |
| Nee LE, Polinsky RJ, Eldridge R, Weingartner H, Smallberg S, Ebert M, A family with histologically confirmed Alzheimer's disease. Arch Neurol40:203-8 1983 |
| PubMed ID: 6600923 |
|
|