NG08110
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 |
Italian 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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ITALIAN
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Family Member
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40
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Relation to Proband
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VI-2084
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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 |
11 |
| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
The donor developed gradual loss of short term memory and word-finding difficulty at approximately age 36. Her neurological exam was remarkable for disorientation to place and time, poor recent memory, mild expressive aphasia, and dyscalculia. EEG was abnormal with low voltage, irregular, disorganized background rhythm with some diffuse paroxysmal activity. CSF exam was normal. CT scan revealed prominant sulci and borderline ventricular dilatation. She now requires custodial care and has developed diffuse myoclonic jerks. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 04/10/85 using explants of minced skin. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XX/47,XX,+7; unbalanced; 82%/18%. Culture was frozen at PDL 7. A lymphoblast culture from same donor is AG08109B. 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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| 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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| 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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| Foncin, Presenile Alzheimer's disease in a large kindred. Rev Neurol141:194 (1985):885-90 1985 |
| PubMed ID: 4001707 |
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