NG08711
DNA from Fibroblast
Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
PRESENILIN 1; PSEN1
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Canadian 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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CANADIAN
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Family Member
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49
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Relation to Proband
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VIII-39
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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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| Passage Frozen |
4 |
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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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| Gene |
PSEN1 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 1 |
104311.0003; ALZHEIMER DISEASE, FAMILIAL, TYPE 3 |
| Identified Mutation |
ALA246GLU; In a pedigree with chromosome 14-linked early-onset Alzheimer disease, Sherrington et al. [Nature 375: 754-760 (1995)] identified an ala246-to-glu mutation in the novel gene they isolated from the region of chromosome 14 identified by linkage studies as containing the AD3 gene. |
| Remarks |
The donor is 25% at risk for Alzheimer's disease. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 3/04/86 using explants of minced skin. The cell morphology is fibroblast-like. Culture was frozen at PDL 8. A lymphoblast culture from same donor is AG08710. Cells carry missense mutation {Ala246Glu (A246E)} in the AD3 [presenilin 1 (PSEN1)] gene. |
| Mollinari C, De Dominicis C, Lupacchini L, Sansone L, Caprini D, Casciola CM, Wang Y, Zhao J, Fini M, Russo M, Garaci E, Merlo D, Detection of Pathological Markers of Neurodegenerative Diseases following Microfluidic Direct Conversion of Patient Fibroblasts into Neurons International journal of molecular sciences23: 2021 |
| PubMed ID: 35216271 |
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| Schrank S, McDaid J, Briggs CA, Mustaly-Kalimi S, Brinks D, Houcek A, Singer O, Bottero V, Marr RA, Stutzmann GE, Human-Induced Neurons from Presenilin 1 Mutant Patients Model Aspects of Alzheimer's Disease Pathology International journal of molecular sciences21: 2020 |
| PubMed ID: 32033164 |
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| 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 |
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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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| 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 |
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