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NA11778 DNA from Fibroblast

Description:

WILSON DISEASE

Affected:

Yes

Sex:

Male

Age:

15 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
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity SAUDI ARABIAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; fibroblast collected from fibroconnective tissue of hepatic hilum ; high serum copper & low ceruloplasmin; received penicillamine treatment; 2 similarly affected brothers have received liver transplants (samples not in repository); father is GM11811.

Characterizations

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Passage Frozen 4
 
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 Clinically affected; fibroblast collected from fibroconnective tissue of hepatic hilum ; high serum copper & low ceruloplasmin; received penicillamine treatment; 2 similarly affected brothers have received liver transplants (samples not in repository); father is GM11811.

Publications

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Krishnan N1, Felice C1, Rivera K1, Pappin DJ1, Tonks NK1., DPM-1001 decreased copper levels and ameliorated deficits in a mouse model of Wilson's disease Genes and Development 32:944-952 2018
PubMed ID: 29945887

External Links

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dbSNP dbSNP ID: 16543
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
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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