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GM03813 male affected SMN1 sample

Identifiers
BioSample: SAMN00808545; Coriell: GM03813; Coriell: NA03813
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 lineGM03813
sexMale
cell typeFibroblast
family id553
family roleproband
raceCaucasian
age3 YR
DNA-IDNA03813
GeneSMN1
affected_bySMN1
MutationEX7-8DEL
collectionNIGMS Human Genetic Cell Repository
Tags
Survival of motor neuron 1, telomeric
SMA1
SMN1
Spinal muscular atrophy i
Description

Marked muscle atrophy and weakness;similarly affected brother;donor subject has 2 copies of the SMN2 gene;PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene

Submission
Coriell; 2012-03-05
Accession:
SAMN00808545
ID:
808545

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