AG06848
Fibroblast from Skin, Arm
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 |
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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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Fibroblast from Skin, Arm
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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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17
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Relation to Proband
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VII-10
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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 |
6.25 |
| Passage Frozen |
9 |
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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 and by Chromosome Analysis |
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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 had a 6-7 year history of progressive intellectual decline with insidious onset. At the time of biopsy she was in a vegetative state requiring total care. Autopsy confirmed Alzheimer's disease upon her death in August 1984. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 05/4/83 using explants of minced skin. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XX/46,XX,t(6;11)(6pter>6q12::11q23>11qter;11pter>11q23::6q12>6qter), inv(7)(7pter>q11.2::q32>q11.2::q32>qter); balanced; 70%/30%. Culture was frozen at PDL 11. A lymphoblast culture from same donor is AG06849B. Cells carry missense mutation {Ala246Glu (A246E)} in the AD3 [presenilin 1 (PSEN1)] gene. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Kim H, Kim S, Cho B, Shin J, Kim J, APOE e4-dependent effects on the early amyloid pathology in induced neurons of patients with Alzheimer's disease Translational neurodegeneration11:45 2022 |
| PubMed ID: 36284363 |
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| 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 sciences23:45 2021 |
| PubMed ID: 35216271 |
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| Raska J, Hribkova H, Klimova H, Fedorova V, Barak M, Barta T, Pospisilova V, Vochyanova S, Vanova T, Bohaciakova D, Generation of six human iPSC lines from patients with a familial Alzheimer's disease (n = 3) and sex- and age-matched healthy controls (n = 3) Stem cell research53:102379 2021 |
| PubMed ID: 34088008 |
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| 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 sciences11:102379 2020 |
| PubMed ID: 33466666 |
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| Muñoz SS1, Balez R1, Castro Cabral-da-Silva ME1, Berg T1, Engel M1, Bax M1, Do-Ha D1, Stevens CH1, Greenough M2, Bush A2, Ooi L3., Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1 Stem Cell Research31:227-230 2018 |
| PubMed ID: 30138848 |
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| Sarasija S, Laboy JT, Ashkavand Z, Bonner J, Tang Y, Norman KR, Presenilin mutations deregulate mitochondrial Ca eLife7:227-230 2017 |
| PubMed ID: 29989545 |
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| Duan L, Bhattacharyya BJ, Belmadani A, Pan L, Miller RJ, Kessler JA, Stem cell derived basal forebrain cholinergic neurons from Alzheimer's disease patients are more susceptible to cell death Mol Neurodegener9(1):3 2014 |
| PubMed ID: 24401693 |
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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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| Khan TK, Alkon DL, An internally controlled peripheral biomarker for Alzheimer's disease: Erk1 and Erk2 responses to the inflammatory signal bradykinin Proceedings of the National Academy of Sciences of the United States of America103:13203-7 2006 |
| PubMed ID: 16920798 |
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| Etcheberrigaray R, Tan M, Dewachter I, Kuiperi C, Van Der Auwera I, Wera S, Qiao L, Bank B, Nelson TJ, Kozikowski AP, Van Leuven F, Alkon DL, Therapeutic effects of PKC activators in Alzheimer's disease transgenic mice. Proc Natl Acad Sci U S A101(30):11141-6 2004 |
| PubMed ID: 15263077 |
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| Mazzola JL, Sirover MA, Subcellular alteration of glyceraldehyde-3-phosphate dehydrogenase in Alzheimer's disease fibroblasts Journal of neuroscience research71:279-85 2002 |
| PubMed ID: 12503091 |
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| Mazzola JL, Sirover MA, Reduction of glyceraldehyde-3-phosphate dehydrogenase activity in Alzheimer's disease and in Huntington's disease fibroblasts. J Neurochem76(2):442-9 2001 |
| PubMed ID: 11208907 |
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| Ibarreta D, Duchen M, Ma D, Qiao L, Kozikowski AP, Etcheberrigaray R, Benzolactam (BL) enhances sAPP secretion in fibroblasts and in PC12 cells. Neuroreport10(5):1035-40 1999 |
| PubMed ID: 10321481 |
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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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| Levitan D, Doyle TG, Brousseau D, Lee MK, Thinakaran G, Slunt HH, Sisodia SS, Greenwald I, Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc Natl Acad Sci U S A93:14940-4 1996 |
| PubMed ID: 8962160 |
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| Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
| PubMed ID: 8643543 |
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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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| Martins RN, Turner BA, Carroll RT, Sweeney D, Kim KS, Wisniewski HM, Blass JP, Gibson GE, Gandy S, High levels of amyloid-beta protein from S182 (Glu246) familial Alzheimer's cells. Neuroreport7:217-20 1995 |
| PubMed ID: 8742455 |
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| Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ, Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. Brain Res Mol Brain Res28(2):319-37 1995 |
| PubMed ID: 7723630 |
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| Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994 |
| PubMed ID: 7847674 |
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| Etcheberrigaray R, Ito E, Kim CS, Alkon DL, Soluble beta-amyloid induction of Alzheimer's phenotype for human fibroblast K+ channels. Science264:276-9 1994 |
| PubMed ID: 8146663 |
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| Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994 |
| PubMed ID: 8290560 |
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| Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
| PubMed ID: 8367484 |
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| Huang HM, Gibson GE, Altered beta-adrenergic receptor-stimulated cAMP formation in cultured skin fibroblasts from Alzheimer donors. J Biol Chem268:14616-21 1993 |
| PubMed ID: 8100816 |
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| 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 |
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| Huang HM, Toral-Barza L, Thaler H, Tofel-Grehl B, Gibson GE, Inositol phosphates and intracellular calcium after bradykinin stimulation in fibroblasts from young, normal aged and Alzheimer donors. Neurobiol Aging12:469-73 1991 |
| PubMed ID: 1770982 |
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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 |
| Cumulative PDL at Freeze |
15.25 |
| Passage Frozen |
9 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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