GM09499
LCL from B-Lymphocyte
Description:
TETRALOGY OF FALLOT
MARKER CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
Other Disorders of Known Biochemistry |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY,add(1)(?ps::p36.31>qter) 1ps is NOR positive
|
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 |
|
Remarks |
See GM09500 Fibro; several dysmorphic features including congen heart disease; ECHO is compat with Tetralogy of Fallot; oxycephalic & brachycephalic head shape; lrg, flat anterior fontanel; prom forehead; rocker bottom feet; 46,XY,1ps,NOR+ |
Split Ratio |
1:4 |
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 |
- |
|
|