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NA01142 DNA from Fibroblast

Description:

RETINOBLASTOMA, SPORADIC
CHROMOSOME DELETION

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Ophthalmologic Disorders
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX,del(13)(pter>q14.1::q22.1>qter)
Species Homo sapiens
Common Name Human
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

Characterizations

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Passage Frozen 8
 
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

Phenotypic Data

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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

Publications

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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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Arlett CF, Harcourt SA, Survey of radiosensitivity in a variety of human cell strains. Cancer Res40:926-32 1980
PubMed ID: 7471106
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 18637
Gene Ontology GO:0000075 cell cycle checkpoint
GO:0000122 negative regulation of transcription from Pol II promoter
GO:0000785 chromatin
GO:0003700 transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0045786 negative regulation of cell cycle
NCBI Gene Gene ID:5925
NCBI GTR 180200 RETINOBLASTOMA; RB1
OMIM 180200 RETINOBLASTOMA; RB1
Omim Description p105-Rb, INCLUDED
  RETINOBLASTOMA; RB1OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED

Images

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View copy number variation 
copy number variation 
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International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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