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NA00325 DNA from Fibroblast

Description:

GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

Affected:

No Data

Sex:

Male

Age:

30 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class X Chromosome Markers
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
ISCN 47,XXY
Species Homo sapiens
Common Name Human
Remarks Sardinian; heterozygous for G6PD deficiency (med type), Xg(a) antigen present; 47,XXY; G6PD mutation is 563C>T (Ser188Phe{S188F})

Characterizations

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Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Gene G6PD
Chromosomal Location Xq28
Allelic Variant 1 305900.0006; G6PD MEDITERRANEAN
Identified Mutation SER188PHE; A change from cytosine to thymine at base position 563 in exon 6 causes a change from serine to phenylalanine in amino acid position 188. This mutation is also referred to as the G6PD Mediterranean-563T mutation.

Phenotypic Data

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Remarks Sardinian; heterozygous for G6PD deficiency (med type), Xg(a) antigen present; 47,XXY; G6PD mutation is 563C>T (Ser188Phe{S188F})

Publications

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Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023
PubMed ID: 38524212
 
Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG, Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization Prenatal diagnosis26:333-9 2006
PubMed ID: 16491513
 
Xu, W., Westwood, B., Bartsocas, C.S., Malcorra-Azpiazu, J.J., Indrak, K., and Beutler, E., Glucose-6 Phosphate Dehydrogenase Mutations and Haplotypes in Various Ethnic Groups Blood85(1):257-263 1995
PubMed ID: 7803800
 
Mutter GL, Pomponio RJ, Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res19:4203-7 1991
PubMed ID: 1678507

External Links

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dbSNP dbSNP ID: 18027
Gene Cards G6PD
Gene Ontology GO:0004345 glucose-6-phosphate 1-dehydrogenase activity
GO:0006010 glucose 6-phosphate utilization
GO:0006098 pentose-phosphate shunt
GO:0008372 cellular_component unknown
GO:0016491 oxidoreductase activity
NCBI Gene Gene ID:2539
NCBI GTR 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
OMIM 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
Omim Description GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM00325 - Fibroblast
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