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GM18308 male affected Dyggve-melchior-clausen disease sample

Identifiers
BioSample: SAMN00805472; Coriell: GM18308
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 lineGM18308
sexMale
cell typeB-Lymphocyte
family id2880
family roleproband
raceHispanic/Latino
ethnicityDOMINICAN REPUBLICAN
age11 YR
GeneDYM
affected_byDyggve-melchior-clausen disease
MutationTYR16TER
collectionNIGMS Human Genetic Cell Repository
Tags
DYM
Dyggve-melchior-clausen disease
Dymeclin
Description

Clinically affected;short trunk;rhizomelic shortening;increasing lordosis;platyspondyly;developmental delay;mental retardation;parents are consanguineous;donor subject is homozygous for a C>G point mutation at nucleotide 48 in exon 2 of the DYM (FLJ90130) gene (48C>G);resulting in a truncation and premature stop at codon 16 TYR16TER (Y16X)

Submission
Coriell; 2012-03-05
Accession:
SAMN00805472
ID:
805472

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