GM10276
LCL from B-Lymphocyte
Description:
TRANSLOCATED 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
|
White
|
Ethnicity
|
ITALIAN
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,t(8;14)(8pter>8q24.3::14q32.1> 14qter;14pter>14q32.1::8q24.3>8qter)
|
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 14: TRANSLOCATION Breakpoint 14q32 t(8;14)14q32 |
|
Chromosome 8: TRANSLOCATION Breakpoint 8q24 t(8;14)8q24 |
Remarks |
Clinically normal father of a child with elevated cholesterol, colitis, small for gestational age at birth, widely opened anterior fontanelle, posteriorly rotated ears, & groove in philtrum |
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 |
- |
|
|