GM18325
LCL from B-Lymphocyte
Description:
SMITH-MAGENIS SYNDROME; SMS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Class |
Disorders of the Nervous System |
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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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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,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
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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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| Remarks |
Clinically affected; brachycephaly; midface hypoplasia; broad face; broad nasal bridge; high arched palate; lowset malformed ears; synophrys; downturned mouth; short/broad hands; syndactyly of toes; abnormal palmar creases; sensory loss; sleep disturbances; self destructive behavior: pulls ears and hair and bites arm; motor and speech delay; hoarse voice; hyperactive; mental retardation; decreased sensitivity to pain |
| View |
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 met-5 |
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karyotype met-5 |
| Split Ratio |
1:4 |
| 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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