Repository NIA Aging Cell Culture Repository
Subcollection Alzheimer's Disease
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Ethnicity GERMAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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.
PDL at Freeze 6.13
Passage Frozen 13
 
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
 
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.
Remark 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.
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
 
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
 
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
 
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
 
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
 
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
View karyotype 
Passage Frozen 13
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM
Serum 15% fetal bovine serum Not inactivated
Substrate None specified