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NA08873 DNA from LCL

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

36 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Pharmacogenetics
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Alternate IDs GM17167 [APPARENTLY HEALTHY INDIVIDUAL]
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 Black/African American
Ethnicity AFRICAN-AMERICAN
Relation to Proband parent
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Mother of a child with partial adenosine deaminase deficiency

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
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 1 T107I; R296C; S486T; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation THR107ILE, ARG296CYS, AND SER486THR; This allelic variant is also known as CYP2D6*17 or CYP2D6(Z). Oscarson et al (Mol Pharmacol 52(6):1034-40, 1997) found that in many black African populations, the capacity for CYP2D6-dependent drug metabolism is generally reduced. A specific variant of the CYP2D6 gene (CYP2D6*17) that carries three functional mutations (T107I, R296C, and S486T) has been found to be present in Zimbabwean subjects with impaired CYP2D6-dependent hydroxylase activity.
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 2 124030.0002; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation DEL; This allelic variant is also known as CYP2D6*5 and CYP2D6(D). In 1 of 42 poor metabolizer individuals (608902), Gough et al. (Nature 347:773-776, 1990) found homozygous deletion of the CYP2D locus. In a poor metabolizer, Gaedigk et al. (Am J Hum Genet 48:943-950, 1991) identified a homozygous 11.5-kb deletion associated with deletion of the entire CYP2D6 gene and total absence of P4502D6 protein in the liver.

Phenotypic Data

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Remarks Mother of a child with partial adenosine deaminase deficiency

External Links

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dbSNP dbSNP ID: 11151
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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Same Subject
  • GM08873 - B-Lymphocyte
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