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NA28366 DNA from LCL

Description:

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
MANNOSIDOSIS, ALPHA B, LYSOSOMAL

Affected:

No

Sex:

Male

Age:

43 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
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 Not Hispanic/Latino
Ethnicity Scottish, English
Country of Origin USA
Family Member 3
Family History N
Relation to Proband father
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected father of affected child GM28364 (lymph).

Phenotypic Data

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Remarks Clinically unaffected father of affected child GM28364 (lymph).

External Links

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Gene Ontology GO:0004559 alpha-mannosidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006464 protein modification
GO:0006517 protein deglycosylation
GO:0016798 hydrolase activity, acting on glycosyl bonds
NCBI Gene Gene ID:4125
NCBI GTR 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA
617106 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
OMIM 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA
617106 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
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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