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GM06803 LCL from B-Lymphocyte

Description:

WILMS TUMOR 1; WT1
CHROMOSOME DELETION

Affected:

Yes

Sex:

Male

Age:

18 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,XY,del(11)(p14p12).arr 11p14.1p12(29201568-38196267)x1
Species Homo sapiens
Common Name Human
Remarks Aniridia, mental retardation, hypogonadism, abnormal right kidney, high arched palate, microphallus, cryptorchidism, and dysplastic testes; 50% of normal mother's catalase act; 46,XY,del(11)(pter>p13:: p11.2>qter); 1 copy of catalase gene

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

Phenotypic Data

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Remarks Aniridia, mental retardation, hypogonadism, abnormal right kidney, high arched palate, microphallus, cryptorchidism, and dysplastic testes; 50% of normal mother's catalase act; 46,XY,del(11)(pter>p13:: p11.2>qter); 1 copy of catalase gene

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, 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
 
Marshall, Aniridia and the 11p13 deletion. Am J Hum Genet34:74A (1982):486-95 1982
PubMed ID: 2539014

External Links

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dbSNP dbSNP ID: 10885
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%
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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