AG16944
LCL from B-Lymphocyte
Description:
TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME
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
|
Sample Source
|
LCL from B-Lymphocyte
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
47,XY,+21[45]/46,XY[4]/48,XY,+21,+21[1]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
107741.0015; 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. |
|
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. |
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 karyotye is 47,XY,+21 and confirms the diagnosis. The APOE genotype of the donor subject is E3/E3. |
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 |
Supplement |
- |
|
|