Description:
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Alternate IDs |
GM17053 [PHOSPHOGLYCERATE KINASE 1 DEFICIENCY] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Asian
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Ethnicity
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JAPANESE
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| phophoglycerate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.2.3; 16% activity. |
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| Remarks |
Japanese; PGK Tokyo, 16% of normal PGK activity |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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