GM50170
LCL from B-Lymphocyte
Description:
INVERTED 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
|
Confirmation
|
Karyotypic analysis and In situ hybridization
|
ISCN
|
46,XX,der(5)(pter>p15.1::q31>q12::p14>q12::p14>p15.1::q31>qter).ish der(5)(C84C11/T3+,D5S23/D5S721+,EGR1+,D5S2907+)
|
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 |
|
Remarks |
Line JL346; hypertelorism; epicanthal folds; mild learning impairment; mother of a male child with Cri-du-Chat syndrome |
Goodart SA, Butler MG, Overhauser J, Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome. Hum Genet97(6):802-7 1996 |
PubMed ID: 8641700 |
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 |
- |
|
|