GM50167
LCL from B-Lymphocyte
Description:
CRI-DU-CHAT SYNDROME
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
ISCN
|
46,XX,del(5)(p15.3).ish del(5)(p15.3)(C84C11/T3-,D5S23/D5S721+,EGR-1+,D5S2907+).arr 5p15.33p15.31(68519-7062418)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 |
| |
| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p15 |
| Remarks |
Line JL333; unusual cry; small head; systolic heart murmur; epicanthic folds; downward slanting palpebral fissures; no mental or developmental delay; mother also carries the deletion |
| 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 |
| |
| Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J, Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet56(6):1404-10 1995 |
| PubMed ID: 7762563 |
| 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 |
- |
|
|