GM50166
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 |
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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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,del(5)(p15.3).ish del(5)(p15.3)(C84C11/T3-,D5S23/D5S721+,EGR-1+,D5S2907+).arr 5p15.33p15.31(68519-7064885)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 LINE assay |
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| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p15.3
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| Remarks |
Unusual cat-like cry; small head; systolic heart murmur; epicanthal folds; downward slanting palpebral fissures; simian crease; no mental or developmental delay; mother also has del(5) |
| 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 |
| View |
FISH Spectrum Green detects C84C11/T3 ; Spectrum Orange detects D5S2907 |
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FISH Spectrum Green detects EGR-1 ; Spectrum Orange detects D5S23 |
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karyotype Spectrum Green detects EGR-1 ; Spectrum Orange detects D5S23 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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