GM11318
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Alternate IDs |
GM17330 [TRANSLOCATED CHROMOSOME] |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
ITALIAN
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX,t(1;7)(1qter>1p34.1::7p13> 7pter;7qter>7p13::1p34.1>1pter)
|
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 and by Chromosome Analysis |
|
Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1p34 t(1;7)1p34 |
|
Chromosome 7: TRANSLOCATION Breakpoint 7p13 t(1;7)7p13 |
Remarks |
Phenotypically normal; 1 spontaneous abortion at 11 wks gestation |
Split Ratio |
1:2 |
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 |
- |
|
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