GM05751
LCL from B-Lymphocyte
Description:
RETINOBLASTOMA, SPORADIC
CHROMOSOME INSERTION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Ophthalmologic Disorders |
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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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2
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Relation to Proband
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parent
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,ins(12;13)(p11.2;q12.3q22).arr[hg19] 1p31.1p13.3(84735326-110461748)x2 hmz,2q31.1q33.1(177458751-197800467)x2 hmz,13q31.1(85008235-86128354)x1,15q14q21.1(35767286-46587447)x2 hmz
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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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| Cytogenetics |
Chromosome 12: INSERTION Breakpoint 12p11 ins(12;13)12p11 |
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Chromosome 13: INSERTION Breakpoint 13q12 ins(12;13)13q12 |
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Chromosome 13: INSERTION Breakpoint 13q22 ins(12;13)13q22 |
| Remarks |
Phenotypically normal; 46,XX,dir ins (12;13)(12pter>12p11.2::13q12.3>13q22:: 12p11.2>12qter;13pter>13q12.3::13q22> 13qter); balanced; a son had bilateral Retinoblastoma & multiple anomalies; proband not in Repository |
| Riccardi VM, Hittner HM, Francke U, Pippin S, Holmquist GP, Kretzer FL, Ferrell R, Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas. Clin Genet15:332-45 1979 |
| PubMed ID: 436330 |
| Split Ratio |
1:4 |
| 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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