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GM05518 LCL from B-Lymphocyte

Description:

WILMS TUMOR 1; WT1
CHROMOSOME DELETION

Affected:

No Data

Sex:

Female

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Heritable Cancer Syndromes and other Cancers
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX,der(9)t(9;11)(p22;p13),del(11)(p11.1).ish der(9)t(9;11)(D11S2071+,305J7-T7+,CEP9+),del(11)(p11.1)(D11S2071-, D11S4974+).arr 11p15.1p11.12(20206582-50028103)x1,11p11.12(50087307-50258808)x1
Species Homo sapiens
Common Name Human
Remarks Aniridia-Wilms tumor; ment retardation; failure to thrive; sporadic; no fam hist for Aniridia-Wilms; 50% of RBC catalase act; nor RBC LDH-A act; nor fibro Hb epsilon DNA genes; 46,XX,-9,+der(9)(9qter> 9p22::11p13>11pter),del(11)(qter>p11.1:)

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 11 Gessler et al (Am J Hum Genet 44:486-495,1989) utilized 37 DNA probes which map to the WAGR region of chromosome 11 to define the WAGR gene loci and provide a high resolution map of this region. DNA from this cell culture showed reduced dosage, indicative of a heterozygous deletion, for at least some of the probes tested.
 
Cytogenetics Chromosome 11: DELETION Aneuploid Segment (-)11p13>11p11
Chromosome 11: DELETION Aneuploid Segment (-)11p15.1>11p11.12
Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment (-)11p13>11p11
Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (-)9pter>9p22

Phenotypic Data

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Remarks Aniridia-Wilms tumor; ment retardation; failure to thrive; sporadic; no fam hist for Aniridia-Wilms; 50% of RBC catalase act; nor RBC LDH-A act; nor fibro Hb epsilon DNA genes; 46,XX,-9,+der(9)(9qter> 9p22::11p13>11pter),del(11)(qter>p11.1:)

Publications

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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
 
Gessler M, Hameister H, Henry I, Junien C, Braun T, Arnold HH, The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith- Wiedemann syndrome. Hum Genet86:135-8 1990
PubMed ID: 2176177
 
Gessler M, Thomas GH, Couillin P, Junien C, McGillivray BC, Hayden M, Jaschek G, Bruns GA, A deletion map of the WAGR region on chromosome 11. Am J Hum Genet44:486-95 1989
PubMed ID: 2539014
 
de Martinville B, Francke U, The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. Nature305:641-3 1983
PubMed ID: 6312329
 
Ferrell RE, Riccardi VM, Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. Cytogenet Cell Genet31:120-3 1981
PubMed ID: 6273073

External Links

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dbSNP dbSNP ID: 14267
NCBI GTR 194070 WILMS TUMOR 1; WT1
OMIM 194070 WILMS TUMOR 1; WT1
Omim Description NEPHROBLASTOMA
  WILMS TUMOR 1; WT1

Culture Protocols

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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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