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GM20189 male affected Marveld2 sample

Identifiers
BioSample: SAMN00805714; Coriell: GM20189; Coriell: NA20189
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 lineGM20189
sexMale
cell typeB-Lymphocyte
family id2457
family roleproband
raceEast Indian
ethnicityPAKISTANI
age20 YR
DNA-IDNA20189
GeneMARVELD2
affected_byMarveld2
MutationARG500TER
collectionNIGMS Human Genetic Cell Repository
Tags
DFNB49
Marvel domain-containing protein 2
Deafness autosomal recessive 49
Marveld2
Description

Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;three affected siblings;father is GM20188;donor subject is homozygous for a C>T transition at nucleotide 1498 in exon 5 of the MARVELD2 (TRIC) gene (c.1498C>T) resulting in an arg500-to-stop substitution Arg500Ter (R500X)

Submission
Coriell; 2012-03-05
Accession:
SAMN00805714
ID:
805714

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