GM05093 male affected Mucopolysaccharidosis type i... - BioSample

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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	GM05093
sex	Male
cell type	Fibroblast
race	Asiatic Indian
age	7 YR
Gene	GNS
affected_by	Mucopolysaccharidosis type iiid
Mutation	ARG355TER
collection	NIGMS Human Genetic Cell Repository

Description: Mentally retarded & characteristic behavioral disturbances;excessive secretion of heparan sulfate & inability to release inorganic sulfate from N-acetylglucosamine-6-sulfate residues of heparan sulfate-derived oligosaccharides;donor subject is homozygous for a C>T transition at nucleotide 1063 in exon 9 of the GNS gene (1063C>T) resulting in the substitution of a termination signal for arginine at codon 355 Arg355Ter (R355X)

OMIM links for OMIM (Select 607664) (1)
BioSample
GM05093 male affected Mucopolysaccharidosis type iiid sample
GM05093 male affected Mucopolysaccharidosis type iiid sample

biosample
MROH6 maestro heat like repeat family member 6 [Homo sapiens]
MROH6 maestro heat like repeat family member 6 [Homo sapiens]
Gene ID:642475

Gene
Gene Links for GEO Profiles (Select 14826763) (1)
Gene
Obesity: preadipocyte expression profile (HG-U133B)
Obesity: preadipocyte expression profile (HG-U133B)
Accession: GDS1481

GEO DataSets

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