Coriell Institute
Repository NIA Aging Cell Culture Repository
Subcollection Chromosome Abnormalities
Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Relation to Proband proband
Confirmation Karyotypic analysis before cell line submission to CCR
ISCN 47,XX,+21
Species Homo sapiens
Common Name Human
Remarks Down syndrome. 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 47,XX,+21 and confirms the diagnosis. 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
 
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 Down syndrome. 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 47,XX,+21 and confirms the diagnosis. The APOE genotype of the donor subject is E2/E3.
No data is available
No data is available
Split Ratio 1:3
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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