GM01850 male unaffected Mucopolysaccharidosis type... - BioSample - NCBI

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GM01850 male unaffected Mucopolysaccharidosis type vii sample

Identifiers: BioSample: SAMN00807223; Coriell: GM01850

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	GM01850
sex	Male
cell type	Fibroblast
family id	52
family role	father
race	Black
ethnicity	AFRICAN-AMERICAN
age	28 YR
Gene	GUSB
Mutation	TRP627CYS
collection	NIGMS Human Genetic Cell Repository

Tags: Mucopolysaccharidosis type vii

Description: About 20% of normal beta-glucuronidase activity;clinically unaffected father of GM00121A;one allele has the W627C mutation in the GUSB gene: a G>T transversion (Trp627> Cys) in exon 12

Submission: Coriell; 2012-03-05

Accession:: SAMN00807223
ID:: 807223

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GM01850 male unaffected Mucopolysaccharidosis type vii sample
GM01850 male unaffected Mucopolysaccharidosis type vii sample

biosample
SAMN00807223 (1)
BioSample

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LinkOut to external resources

GM01850 (CVCL_M988) [Cellosaurus - a cell line kno...]
GM01850 (CVCL_M988)
Cellosaurus - a cell line knowledge resource

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