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GM05912 LCL from B-Lymphocyte

Description:

WILMS TUMOR 1; WT1
INVERTED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

20 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
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 1
Relation to Proband parent
Confirmation Clinical summary/Case history
ISCN 46,XX,ins(11)(pter>p14::p11.2>q22:: p14>p11.2::q22>qter)
Species Homo sapiens
Common Name Human
Remarks Balanced carrier; 46,XX, inv ins(11) (pter>p14::p11.2>q22::p14>p11.2::q22> qter); a daughter had aniridia, multiple anomalies, failure to thrive, & severe psychomotor retardation; affected daughter is not in the Repository

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks Balanced carrier; 46,XX, inv ins(11) (pter>p14::p11.2>q22::p14>p11.2::q22> qter); a daughter had aniridia, multiple anomalies, failure to thrive, & severe psychomotor retardation; affected daughter is not in the Repository

Publications

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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
 
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
 
Hittner HM, Riccardi VM, Francke U, Aniridia caused by a heritable chromosome 11 deletion. Ophthalmology86:1173-83 1979
PubMed ID: 230439

External Links

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dbSNP dbSNP ID: 20625
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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