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GM16864 male affected EDMD1 sample

Identifiers
BioSample: SAMN00804732; Coriell: GM16864
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 lineGM16864
sexMale
cell typeB-Lymphocyte
raceCaucasian
age57 YR
GeneEMD
affected_byEDMD1
Mutation1712insTGGGC
collectionNIGMS Human Genetic Cell Repository
Tags
Emery-dreifuss muscular dystrophy 1
EMD
EMERIN
EDMD1
Description

Clinically affected;deceased at age 60 from arrhythmia;well until adulthood;then slowly progressive proximal muscle weakness;cardiomyopathy with heart blockage;elbow contractures;no family history;donor subject has a five bp insertion in exon 6 at nucleotide 1712 (1712-1713insTGGGC) of the emerin (EMD) gene;resulting in a frameshift and a stop codon at amino acid 238.

Submission
Coriell; 2012-03-05
Accession:
SAMN00804732
ID:
804732

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