Description:
RETINOBLASTOMA, SPORADIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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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Clinical summary/Case history
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ISCN
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46,X,t(X;13)(Xqter>Xp22::13q12>13qter; 13pter>13q12::Xp22>Xpter)
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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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| Passage Frozen |
14 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13q12 t(X;13)13q12 |
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Chromosome X: TRANSLOCATION Breakpoint Xp22 t(X;13)Xp22 |
| Remarks |
46,X,t(X;13)(Xqter>Xp22::13q12>13qter; 13pter>13q12::Xp22>Xpter); balanced; abnormal X is late replicating |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996 |
| PubMed ID: 8630978 |
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| Tokino T, Fukushige S, Nakamura T, Nagaya T, Murotsu T, Shiga K, Aoki N, Matsubara K, Chromosomal translocation and inverted duplication associated with integrated hepatitis B virus in hepatocellular carcinomas. J Virol61:3848-54 1987 |
| PubMed ID: 2824819 |
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| Schor SL, Schor AM, Durning P, Rushton G, Skin fibroblasts obtained from cancer patients display foetal-like migratory behaviour on collagen gels. J Cell Sci73:235-44 1985 |
| PubMed ID: 4019594 |
| Passage Frozen |
14 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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