Coriell Institute
Repository NIA Aging Cell Culture Repository
Subcollection Alzheimer's Disease
Quantity 10ug
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Ethnicity JEWISH
Family Member 3
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks The donor exhibits progressive dementia. The donor is one of 23 affected individuals in a large Alzheimer's disease pedigree. The culture was initiated by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XY; normal diploid male. The APOE genotype of the donor subject is E2/E3.
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 APOE
Chromosomal Location 19q13.2
Allelic Variant 1 107741.0001; APOE2 ISOFORMS
Identified Mutation ARG158CYS; The 3 major isoforms of human apolipoprotein E (apoE2, -E3, and -E4), as identified by isoelectric focusing, are coded for by 3 alleles (epsilon 2, 3, and 4). The E2 (107741.0001), E3 (107741.0015), and E4 (107741.0016) isoforms differ in amino acid sequence at 2 sites, residue 112 (called site A) and residue 158 (called site B). At sites A/B, apoE2, -E3, and -E4 contain cysteine/cysteine, cysteine/arginine, and arginine/arginine, respectively [Weisgraber et al. J. Biol. Chem. 256: 9077-9083 (1981) and Rall et al. Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)].
 
Gene APOE
Chromosomal Location 19q13.2
Allelic Variant 2 107741.0015; APOE3 ISOFORM
Identified Mutation CYS112 AND ARG158; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)] and Rall et al. [Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)] identified one of the 3 major apolipoprotein E isoforms, apolipoprotein E3. The variant has Cys112 and Arg158. This is the most common variant, with frequencies of 40% to 90% in various populations.
Remark The donor exhibits progressive dementia. The donor is one of 23 affected individuals in a large Alzheimer's disease pedigree. The culture was initiated by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XY; normal diploid male. The APOE genotype of the donor subject is E2/E3.
Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME, et al, Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science258:668-71 1992
PubMed ID: 1411576
 
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
 
Schellenberg GD, Anderson L, O'dahl S, Wisjman EM, Sadovnick AD, Ball MJ, Larson EB, Kukull WA, Martin GM, Roses AD, et al, APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease [see comments] Am J Hum Genet49:511-7 1991
PubMed ID: 1679288
 
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
 
Goudsmit J, White BJ, Weitkamp LR, Keats BJ, Morrow CH, Gajdusek DC, Familial Alzheimer's disease in two kindreds of the same geographic and ethnic origin. A clinical and genetic study. J Neurol Sci49:79-89 1981
PubMed ID: 7205322
View karyotype 
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium

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