GM25361
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 |
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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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Country of Origin
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USA
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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 and Case history
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ISCN
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46,XY,del(17)(p11.2).arr[hg19]17p11.2(18358933-20395875)x1,17p11.2(16774136-18283197)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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| Remarks |
Clinically affected; diagnosed at 1 month old by geneticist via FISH analysis; prematurely delivered at 32 weeks; feeding problems during infancy (regular, loose bowel movements); frontal bossing; broad nasal bridge; abnormal ear shape; synophrys; dry skin; pes planus; syndactyly; wide, flat feet; strabismus; micro-cornea; kidney malformation (ectopic kidney, functioning at 30%); overweight/obese; hoarse voice; cold hands and feet; abnormally little use of hands; abnormal gait; self-injurious behaviors; decrease tolerance to exercise; history of myringotomy tubes. |
| Split Ratio |
1:5 |
| 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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