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GM05913 LCL from B-Lymphocyte

Description:

WILMS TUMOR 1; WT1
INVERTED CHROMOSOME

Affected:

No Data

Sex:

Male

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 Chromosome Abnormalities
Heritable Diseases
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
Family Member 2
Relation to Proband sibling
Confirmation Clinical summary/Case history
ISCN 46,XY,rec(11)(pter> q22::p14>p11.2::q22>qter)mat
Species Homo sapiens
Common Name Human
Remarks Macular dysfunction, cleft lip & palate, & developmental delay; has triplication of 11p11.2>p14; 157% of normal RBC catalase activity; 46,XY,rec(11)(pter>q22:: p14>p11.2::q22>qter)mat; a sib had aniridia

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 11: RECOMBINANT Aneuploid Segment (-)11p14>11p11
Chromosome 11: RECOMBINANT Trisomic Segment 11p14>11p11

Phenotypic Data

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Remarks Macular dysfunction, cleft lip & palate, & developmental delay; has triplication of 11p11.2>p14; 157% of normal RBC catalase activity; 46,XY,rec(11)(pter>q22:: p14>p11.2::q22>qter)mat; a sib had aniridia

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
 
Reeve AE, Eccles MR, Wilkins RJ, Bell GI, Millow LJ, Expression of insulin-like growth factor-II transcripts in Wilms' tumour. Nature317:258-60 1985
PubMed ID: 2995817
 
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
 
Strobel RJ, Riccardi VM, Ledbetter DH, Hittner HM, Duplication 11p11.3 leads to 14.1 to meiotic crossing--over. Am J Med Genet7:15-20 1980
PubMed ID: 7211949

External Links

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dbSNP dbSNP ID: 22114
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 1:4
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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