Description:
RETINOBLASTOMA, SPORADIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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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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 Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)13q14>13q22 |
| Remarks |
Bilateral; 46,XX,del(13)(pter>q14.1:: q22.1>qter) in fibroblasts; see GM01142A Fibroblast and GM03022 SV40 Transformed 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 |
| |
| Wang L, Rao M, Fang Y, Hameed M, Viale A, Busam K, Jhanwar SC., A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation. J Mol Diagn.15(5):581-91 2013 |
| PubMed ID: 23800576 |
| |
| 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 |
| |
| Higgins MJ, Turmel C, Noolandi J, Neumann PE, Lalande M, Construction of the physical map for three loci in chromosome band 13q14: comparison to the genetic map. Proc Natl Acad Sci U S A87:3415-9 1990 |
| PubMed ID: 1970636 |
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