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GM02769 male affected Fabry disease sample

Identifiers
BioSample: SAMN00808096; Coriell: GM02769
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 lineGM02769
sexMale
cell typeFibroblast
family id246
family roleproband
raceCaucasian
age18 YR
GeneGLA
affected_byFabry disease
MutationARG220TER
collectionNIGMS Human Genetic Cell Repository
Tags
Galactosidase, alpha
Fabry disease
GLA
Description

Alpha-galactosidase A absent;alpha-galactosidase B normal;Xg(a) antigen negative;positive family history;affected maternal grandfather;classic phenotype;donor subject is hemizygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon Arg220Ter (R220X)

Submission
Coriell; 2012-03-05
Accession:
SAMN00808096
ID:
808096

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