GM00743 male affected Phosphoglycerate kinase 1 sa... - BioSample - NCBI

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GM00743 male affected Phosphoglycerate kinase 1 sample

Identifiers: BioSample: SAMN00799406; Coriell: GM00743; Coriell: NA00743

Organism: Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo

Attributes

cell line	GM00743
sex	Male
cell type	Fibroblast
race	Asian
ethnicity	JAPANESE
age	4 YR
DNA-ID	NA00743
affected_by	Phosphoglycerate kinase 1
collection	NIGMS Human Genetic Cell Repository

Tags: Phosphoglycerate kinase 1
PGK1

Description: Japanese;nonspherocytic hemolytic anemia;cerebral palsy;mentally deficient;decreased muscle and erythrocyte PGK activity;expired at age 9;variant PGK (Matsue);5% of normal fibroblast PGK activity;normal PGK mRNA level;possible increased rate of PGK degradation

Submission: Coriell; 2012-03-05

Accession:: SAMN00799406
ID:: 799406

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GM00743 male affected Phosphoglycerate kinase 1 sample
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