GM18319
LCL from B-Lymphocyte
Description:
SMITH-MAGENIS SYNDROME; SMS
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Class |
Disorders of the Nervous System |
Biopsy Source
|
Peripheral vein
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Cell Type
|
B-Lymphocyte
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Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
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Relation to Proband
|
proband
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Confirmation
|
Karyotypic analysis and In situ hybridization
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ISCN
|
46,XX,del(17)(pter>p11.2::p11.2>qter).ish del(17)(LIS1+,FLI-)
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Species
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Homo sapiens
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Common Name
|
Human
|
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 |
|
Remarks |
Clinically affected; broad face; mongoloid slant; delayed/abnormal dentition; short/broad hands; hypotonia; lordosis; sleep disturbances; self destructive behavior: chews fingers and head banging; motor delay; soft voice; hearing loss; mild mental retardation |
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 |
View |
copy number variation |
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copy number variation |
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FISH Probes: FL1 gene in Smith-Magenis critical region in 17p11.2 - FITC (green), LIS1 in 17p13.3 - Texas Red. Both 17s are identified by the red LIS1signal. Deletion of the green FLI signal is seen in one 17. This line carries the deletion of 17p11.2. |
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karyotype Probes: FL1 gene in Smith-Magenis critical region in 17p11.2 - FITC (green), LIS1 in 17p13.3 - Texas Red. Both 17s are identified by the red LIS1signal. Deletion of the green FLI signal is seen in one 17. This line carries the deletion of 17p11.2. |
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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