NG09908
DNA from Fibroblast
Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 4
PRESENILIN 2; PSEN2
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Alzheimer's 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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1
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Relation to Proband
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proband
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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 |
4.5 |
| Passage Frozen |
12 |
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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 |
PSEN2 |
| Chromosomal Location |
1q31-q42 |
| Allelic Variant 1 |
600759.0001; ALZHEIMER DISEASE, FAMILIAL, TYPE 4 |
| Identified Mutation |
ASN141ILE; In 3 out of 4 pedigrees of Volga German ancestry, Rogaev et al. [Nature 376: 775-778 (1995)] found heterozygosity for an A-to-T substitution at nucleotide 787 causing an asn141-to-ile (N141I) missense mutation in probands affected with Alzheimer disease. Presumably this mutation achieved high frequency in the Volga Germans through founder effect. |
| Remarks |
The donor (Volga German) exhibited progressive dementia. Donor's paternal grandfather, aunt, two cousins and two siblings were affected with Alzheimer disease. The culture was initiated on 4/06/84 using explants of minced skin tissue taken post-mortem from the mesial aspect of the upper arm. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female with 8% of the cells examined showing random chromosome loss. Culture was frozen at passage 10 and the PDL is not known. The affected sister of this donor is AG09907. A heterozygous substitution (A>T at nucleotide 787) in the AD4 [presenilin 2 (PSEN2)] gene results in an Asn141Ile (N141I) missense mutation. 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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| Marei HE, Althani A, Afifi N, Hasan A, Caceci T, Pozzoli G, Cenciarelli C, Generation of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2 Stem cell research56:102552 2021 |
| PubMed ID: 34634760 |
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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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| Murti H, Pieknell K, Bachtiar I, Sulistio YA, Lee SH, Generation of human induced pluripotent stem cell line from Alzheimer's disease patient with PSEN2 N141I mutation using integration-free non-viral method Stem cell research47:101892 2020 |
| PubMed ID: 32623353 |
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| Rossi A, Rigotto G, Valente G, Giorgio V, Basso E, Filadi R, Pizzo P, Defective Mitochondrial Pyruvate Flux Affects Cell Bioenergetics in Alzheimer's Disease-Related Models Cell reports30:2332-2348.e10 2019 |
| PubMed ID: 32075767 |
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| Greotti E, Capitanio P, Wong A, Pozzan T, Pizzo P, Pendin D, Familial Alzheimer's disease-linked presenilin mutants and intracellular Ca Cell calcium79:44-56 2018 |
| PubMed ID: 30822648 |
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| Qiang L, Fujita R, Yamashita T, Angulo S, Rhinn H, Rhee D, Doege C, Chau L, Aubry L, Vanti WB, Moreno H, Abeliovich A, Directed conversion of Alzheimer's disease patient skin fibroblasts into functional neurons Cell146:359-71 2010 |
| PubMed ID: 21816272 |
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| Mendonsa G, Dobrowolska J, Lin A, Vijairania P, Jong YJ, Baenziger NL, Molecular profiling reveals diversity of stress signal transduction cascades in highly penetrant Alzheimer's disease human skin fibroblasts PLoS ONE4:e4655 2008 |
| PubMed ID: 19247475 |
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| Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al, Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature376:775-8 1995 |
| PubMed ID: 7651536 |
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| Schellenberg GD, Pericak-Vance MA, Wijsman EM, Moore DK, Gaskell PC Jr, Yamaoka LA, Bebout JL, Anderson L, Welsh KA, Clark CM, et al, Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. Am J Hum Genet48:563-83 1991 |
| PubMed ID: 1998342 |
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| Bird TD, Sumi SM, Nemens EJ, Nochlin D, Schellenberg G, Lampe TH, Sadovnick A, Chui H, Miner GW, Tinklenberg J, Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds. Ann Neurol25:12-25 1989 |
| PubMed ID: 2913924 |
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| Bird TD, Lampe TH, Nemens EJ, Miner GW, Sumi SM, Schellenberg GD, Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect. Ann Neurol23:25-31 1988 |
| PubMed ID: 3345066 |
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