GM01388
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,+der(9)t(9;13)(q21.3;q12.1)mat,-13.arr 9p24.3q21.31(36586-80712809)x3
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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 Chromosome Analysis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (-)13pter>13q12 |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9q21 |
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Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9pter>9q21 |
| Remarks |
Profoundly retarded; clinical features of trisomy 9p syndrome; see GM01387 Fibroblast |
| 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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| Barr FG, Holick J, Nycum L, Biegel JA, Emanuel BS, Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics13:1150-6 1992 |
| PubMed ID: 1505949 |
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| Barr FG, Sellinger B, Emanuel BS, Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. Genomics11:941-7 1991 |
| PubMed ID: 1783402 |
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| Howard-Peebles PN, Yarbrough KM, Stoddard GR, Rary JM, Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12). Clin Genet11:46-52 1977 |
| PubMed ID: 830449 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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