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GM23505 male affected Glycogen phosphorylase, muscle sample

Identifiers
BioSample: SAMN00806837; Coriell: GM23505
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 lineGM23505
sexMale
cell typeB-Lymphocyte
raceCaucasian
ethnicityBRITISH
GenePYGM
affected_byGlycogen phosphorylase, muscle
MutationARG49TER
collectionNIGMS Human Genetic Cell Repository
Tags
Glycogen storage disease v
PYGM
Glycogen phosphorylase, muscle
Description

Clinically affected;no family history;onset of symptoms at age 4 years;exercise intolerance;rhabdomyolysis;no myophosphorylase;excess glygogen;donor subject is homozygous for a C>T mutation at codon 49 in exon 1 of the PYGM gene resulting in an encoded arginine (CGA) to a stop codon (TGA)

Submission
Coriell; 2012-03-05
Accession:
SAMN00806837
ID:
806837

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