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GM04516 female affected Sideroblastic anemia - 206000 or 301300 sample

Identifiers
BioSample: SAMN00795331; Coriell: GM04516
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 lineGM04516
sexFemale
cell typeFibroblast
family id736
family roleproband
raceCaucasian
age5 YR
affected_bySideroblastic anemia - 206000 or 301300
collectionNIGMS Human Genetic Cell Repository
Tags
Sideroblastic anemia - 206000 or 301300
Description

Pancytopenia;pancreatic insufficiency;dystonia;& neurological symptoms;see GM04515 Lymphoid

Submission
Coriell; 2012-03-05
ID:
795331

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