GM07743
LCL from B-Lymphocyte
Description:
DERIVATIVE CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Asian
|
Ethnicity
|
JAPANESE
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
45,X,der(X;21)(Xqter>Xp10::21q10>21qter) .ish dic(X;21)(DXZ1+;D21Z1+)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Remarks |
Severe mental and growth retardation; RBCs show 38% of normal superoxide dismutase-1 activity |
Nakai, Erythrocyte superoxide dismutase-1 and 21 monosomy. Cytogenet Cell Genet37:547 (1984): 1984 |
PubMed ID: |
Split Ratio |
1:5 |
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 |
- |
|
|