GM14118
LCL from B-Lymphocyte
Description:
CRI-DU-CHAT SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Disorders of Uncertain Biochemical Etiology |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
46,XX,der(5)t(5;6)(p13.3;p25).ish der(5)t(5;6)(D5S23-,6ptel48+),del(8)(p23.3)(D8S2333-).arr 5p15.33p13.3(68519-30158549)x1,6p25.3(94648-2289621)x3,8p23.3(36385-237841)x1.14q32.12q32.13(91720288-92918797)x1
|
|
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 5: DELETION Aneuploid Segment (-)5pter>5p13 |
|
Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p14 |
| Remarks |
Line JL32 (human parent of hybrid cell line JH134); 46,XX,del(5)(qter>p13 or p14:).ish del(5)(D5S23-) |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ, Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet3:247-52 1994 |
| PubMed ID: 8004090 |
| View |
FISH Texas Red detects 6ptel48, FITC detects D8S2333, DAPI counterstain |
|
FISH Texas Red detects 6ptel48, FITC detects D8S2333, DAPI counterstain |
|
karyotype Texas Red detects 6ptel48, FITC detects D8S2333, DAPI counterstain |
|
karyotype Texas Red detects 6ptel48, FITC detects D8S2333, DAPI counterstain |
|
karyotype Texas Red detects 6ptel48, FITC detects D8S2333, DAPI counterstain |
| 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 |
- |
|
|