Description:
RETINOBLASTOMA, SPORADIC
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| 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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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,del(13)(q14q21).arr 13q14.11q21.2(43649072-59783648)x1
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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 |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)13q14>13q21 |
| Remarks |
46,XX,del(13)(pter>q14.1::q21.2>qter) in lymphocytes and fibroblasts; bilateral; sporadic; negative family history; normal growth and development except for delayed speech; see GM07312A Lymphoid |
| 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 |
| |
| 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 |
| |
| Kallioniemi A, Kallioniemi OP, Waldman FM, Chen LC, Yu LC, Fung YK, Smith HS, Pinkel D, Gray JW, Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization. Cytogenet Cell Genet60:190-3 1992 |
| PubMed ID: 1354594 |
| |
| Little JB, Nichols WW, Troilo P, Nagasawa H, Strong LC, Radiation sensitivity of cell strains from families with genetic disorders predisposing to radiation-induced cancer. Cancer Res49:4705-14 1989 |
| PubMed ID: 2758405 |
| |
| Kimchi A, Wang XF, Weinberg RA, Cheifetz S, Massague J, Absence of TGF-beta receptors and growth inhibitory responses in retinoblastoma cells. Science240:196-9 1988 |
| PubMed ID: 2895499 |
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| Weichselbaum RR, Tomkinson K, Little JB, Repair of potentially lethal X-ray damage in fibroblasts derived from patients with hereditary and D-deletion retinoblastoma. Int J Radiat Biol Relat Stud Phys Chem Med47:445-56 1985 |
| PubMed ID: 3872857 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
|