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GM04535 LCL from B-Lymphocyte

Description:

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Affected:

Yes

Sex:

Male

Age:

15 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
Class Disorders of Carbohydrate Metabolism
Alternate IDs GM17053 [PHOSPHOGLYCERATE KINASE 1 DEFICIENCY]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Asian
Ethnicity JAPANESE
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Japanese; PGK Tokyo, 16% of normal PGK activity

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis
 
phophoglycerate kinase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.2.3; 16% activity.
 

Phenotypic Data

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Remarks Japanese; PGK Tokyo, 16% of normal PGK activity

Publications

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Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH, Polymorphisms associated with the DAZ genes on the human Y chromosome Genomics86:431-8 2005
PubMed ID: 16085382
 
Raymond CK, Kas A, Paddock M, Qiu R, Zhou Y, Subramanian S, Chang J, Palmieri A, Haugen E, Kaul R, Olson MV, Ancient haplotypes of the HLA Class II region Genome research15:1250-7 2005
PubMed ID: 16140993
 
Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S, Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet35(3):247-51 2003
PubMed ID: 14528305
 
Fujii H, Chen SH, Akatsuka J, Miwa S, Yoshida A, Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Proc Natl Acad Sci U S A78:2587-90 1981
PubMed ID: 6941312

External Links

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dbSNP dbSNP ID: 10738
NCBI GTR 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
OMIM 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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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