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NA11811 DNA from LCL

Description:

WILSON DISEASE

Affected:

No

Sex:

Male

Age:

60 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Metal Metabolism
Alternate IDs GM17050 [WILSON DISEASE]
GM17339 [WILSON DISEASE]
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity SAUDI ARABIAN
Family Member 2
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Saudi Arabian; clinically unaffected; 3 affected sons; affected son is GM11778 Fibroblast

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
 

Phenotypic Data

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Remarks Saudi Arabian; clinically unaffected; 3 affected sons; affected son is GM11778 Fibroblast

Publications

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Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003
PubMed ID: 12517831

External Links

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dbSNP dbSNP ID: 11645
NCBI GTR 277900 WILSON DISEASE; WND
OMIM 277900 WILSON DISEASE; WND
Omim Description HEPATOLENTICULAR DEGENERATIONATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE, INCLUDED; ATP7B, INCLUDED
  WILSON DISEASE
  WND; WD
Pricing
Commercial/For-profit:
$281.00USD
Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
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