GM12135
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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White
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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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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 15: DUPLICATION Aneuploid Segment (+)15q11>15q12 |
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Chromosome 15: DUPLICATION Trisomic Segment 15q11>15q12 |
| Remarks |
At age 13, weight >95th %ile, height 15th %ile, and OFC 75th %ile; small hands and feet; brown hair and irides; cleft palate; developmental delay; irregular menses; 46,XX,dup(15)(q11>q12) |
| 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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| Procter M, Chou LS, Tang W, Jama M, Mao R, Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification Clinical chemistry52:1276-83 2006 |
| PubMed ID: 16690734 |
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| Schüle B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U, Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q112) associated with Prader-Willi syndrome BMC medical genetics [electronic resource]6:18 2005 |
| PubMed ID: 15877813 |
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| Pettigrew AL, Gollin SM, Greenberg F, Riccardi VM, Ledbetter DH, Duplication of proximal 15q as a cause of Prader-Willi syndrome. Am J Med Genet28:791-802 1987 |
| PubMed ID: 3688017 |
| 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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