GM50154
LCL from B-Lymphocyte
Description:
CRI-DU-CHAT SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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ISCN
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46,XX,del(5)(p15.2).ish del(5)(p15.2)(5ptel48-,D5S721/D5S23+,EGR1+).arr 5p15.33p15.2(68519-8680458)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p15 |
| Remarks |
Line JL285; unusual cat-like cry; low birth weight, but no significant growth delay; normal facial features; mild developmental delay [family 2 in Gersh et al Am J Hum Genet 56:1404-1410, 1995]; parental line of hybrid GM50092 |
| 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 |
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| 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 |
1:3 |
| 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 |
- |
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