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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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,del(13)(pter>q14.1::q22.1>qter)
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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 |
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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); see GM01484 Lymphoid and GM03022 SV40 Transformed Fibroblast; 1.6 times more sensitive than normal cells to cell killing by ionizing radiation; nor sensitivity to DNA alkylating agents |
| Moulay Lakhdar I, Ferlazzo ML, Al Choboq J, Berthel E, Sonzogni L, Devic C, Granzotto A, Thariat J, Foray N, Fibroblasts from Retinoblastoma Patients Show Radiosensitivity Linked to Abnormal Localization of the ATM Protein Current eye research:1-12 2020 |
| PubMed ID: 32862699 |
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| 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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| 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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| 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 |
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| Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF, Effect of dose rate on the survival of irradiated human skin fibroblasts. Radiat Res132:375-9 1992 |
| PubMed ID: 1475361 |
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| Lee EY, Lee WH, Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. Proc Natl Acad Sci U S A83:6337-41 1986 |
| PubMed ID: 3462698 |
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| Squire J, Dryja TP, Dunn J, Goddard A, Hofmann T, Musarella M, Willard HF, Becker AJ, Gallie BL, Phillips RA, Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13. Proc Natl Acad Sci U S A83:6573-7 1986 |
| PubMed ID: 3462714 |
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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 |
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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 |
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| Cavenee W, Leach R, Mohandas T, Pearson P, White R, Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am J Hum Genet36:10-24 1984 |
| PubMed ID: 6320640 |
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| Arlett CF, Priestley A, Defective recovery from potentially lethal damage in some human fibroblast cell strains. Int J Radiat Biol43:157-167 1983 |
| PubMed ID: 6600729 |
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| Takabayashi T, Lin MS, Wilson MG, Sister chromatid exchanges and chromosome aberrations in fibroblasts from patients with retinoblastoma. Hum Genet63:317-9 1983 |
| PubMed ID: 6862435 |
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| Barfknecht TR, Little JB, Survival of hereditary retinoblastoma human skin fibroblasts after treatment with DNA-damaging chemicals. Mutat Res105:189-94 1982 |
| PubMed ID: 6815522 |
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| Nove J, Nichols WW, Weichselbaum RR, Little JB, Abnormalities of human chromosome 13 and in vitro radiosensitivity; a study of 19 fibroblast strains. Mutat Res84:157-67 1981 |
| PubMed ID: 7329430 |
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| Zampetti-Bosseler F, Scott D, Cell death, chromosome damage and mitotic delay in normal human, ataxia telangiectasia and retinoblastoma fibroblasts after x-irradiation. Int J Radiat Biol Relat Stud Phys Chem Med39:547-58 1981 |
| PubMed ID: 6972365 |
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| Arlett CF, Harcourt SA, Survey of radiosensitivity in a variety of human cell strains. Cancer Res40:926-32 1980 |
| PubMed ID: 7471106 |
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| Nove J, Weichselbaum RR, Nichols WW, Albert DM, Little JB, In vitro studies of fibroblasts from patients with retinoblastoma. Int Ophthalmol Clin20:211-22 1980 |
| PubMed ID: 6995388 |
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| Weichselbaum RR, Nove J, Albert D, Little JB, An in vitro investigation of genetic susceptibility to cancer in diploid fibroblasts from retinoblastoma patients. Teratog Carcinog Mutagen1:171-9 1980 |
| PubMed ID: 6119809 |
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| Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980 |
| PubMed ID: 7471105 |
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| Nove J, Little JB, Weichselbaum RR, Nichols WW, Hoffman E, Retinoblastoma, chromosome 13, and in vitro cellular radiosensitivity. Cytogenet Cell Genet24:176-84 1979 |
| PubMed ID: 477414 |
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| Little, X-ray sensitivity of fibroblasts from patients with retinoblastoma and with abnormalities of chromosome 13. (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 685:176-84 1978 |
| PubMed ID: 477414 |
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| Little, Biological consequences of X-ray induced DNA damage and repair processes in relation to cell killing and carcinogenesis (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 701:176-84 1978 |
| PubMed ID: 477414 |
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| Nichols WW, Bradt CI, Toji LH, Godley M, Segawa M, Induction of sister chromatid exchanges by transformation with simian virus 40. Cancer Res38:960-4 1978 |
| PubMed ID: 205353 |
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| Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of diploid fibroblasts from patients with hereditary or sporadic retinoblastoma. Proc Natl Acad Sci U S A75:3962-4 1978 |
| PubMed ID: 279012 |
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| Weichselbaum RR, Nove J, Little JB, Skin fibroblasts from a D-deletion type retinoblastoma patient are abnormally X-ray sensitive. Nature266:726-7 1977 |
| PubMed ID: 876352 |
| Passage Frozen |
8 |
| Split Ratio |
1:4 |
| 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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