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GM14890 LCL from B-Lymphocyte

Description:

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

Affected:

Yes

Sex:

Male

Age:

36 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class X Chromosome Markers
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity CANADIAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Canadian; chronic hemolytic anemia; neutrophil dysfunction; granuloma; analysis of mRNA revealed three nucleotide base changes resulting in amino acid substitutions Ser>Cys at position 106 [Ser106Cys (S106C)], Arg>Trp at position 182 [Arg182Trp (R182W)], and Arg>Cys at 198 [Arg198Cys (R198C)]

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 G6PD
Chromosomal Location Xq28
Allelic Variant 1 305900.0032; CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA
Identified Mutation SER106CYS, ARG182TRP, ARG198CYS; Nucleotide sequencing of the cDNA revealed three nucleotide base changes: a C>G at nucleotide 317 (counting from adenine of the initiation codon, which results in the Ser>Cys substitution at position 106 (S106C), a C>T at nucleotide 544, which induces the Arg>Trp at position 182 (R182W), and a C>T at nucleotide 592, which induces Arg>Cys at position 198 (R198C) of the G6PD protein.

Phenotypic Data

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Remarks Canadian; chronic hemolytic anemia; neutrophil dysfunction; granuloma; analysis of mRNA revealed three nucleotide base changes resulting in amino acid substitutions Ser>Cys at position 106 [Ser106Cys (S106C)], Arg>Trp at position 182 [Arg182Trp (R182W)], and Arg>Cys at 198 [Arg198Cys (R198C)]

Publications

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You H, Havey L, Li Z, Asara J, Guo R, Epstein-Barr-Virus-Driven Cardiolipin Synthesis Sustains Metabolic Remodeling During B-cell Lymphomagenesis Research square: 2024
PubMed ID: 38659762
 
Maeda M, Constantoulakis P, Chen CS, Stamatoyannopoulos G, Yoshida A, Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material. Am J Hum Genet51:386-95 1992
PubMed ID: 1353664
 
Gray GR, Stamatoyannopoulos G, Naiman SC, Kliman MR, Klebanoff SJ, Austin T, Yoshida A, Robinson GC, Neutrophil dysfunction, chronic granulomatous disease, and non- spherocytic haemolytic anaemia caused by complete deficiency of glucose- 6-phosphate dehydrogenase. Lancet2:530-4 1973
PubMed ID: 4125296

External Links

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dbSNP dbSNP ID: 23283
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 300908 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
OMIM 300908 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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