GM23943
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
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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Race
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Asian, Other
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Japanese, German, Irish
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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 In situ hybridization
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ISCN
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45,XX,der(10)t(10;15)(p15;q13),-15.ish der(10)t(10;15)(p15;q13)(D10S2488+,10QTEL24+).arr 15q11.1q13.2(20016315-30386399)x1,15q14(34723419-34830932)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 with Prader-Willi syndrome due to an unbalanced translocation involving 10p and 15q; diagnosed at 1 week of age; symptom onset at birth; in NICU for first 2 months due to feeding difficulty; gastrostomy tube; early onset kyphoscoliosis; truncal hypotonia; epicanthus inversus; saliva mildly thick; right occipital plagiocephaly;heterotopia;seizures;developmental delay: sat at 12 months, crawled at 15 months, pulled to stand at 18 months, walked with support at 19 months, first words at 15 months; some tantrums; no significant preoccupation with food, exhibits satiety; karyotype result: 45,XX,der(10)t(10;15)(p15;q13); FISH result: ish del(15)(q11.2q11.2)(SNRPN-); treatments include: body cast for treatment of kyphoscoliosis; growth hormone (Tevtropin); Keppra; insulin; diazepam; early intervention, physical, occupational, and speech therapy. |
| Split Ratio |
1:2 |
| 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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