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GM00908 male affected Cystinosis, nephropathic sample

Identifiers
BioSample: SAMN00799504; Coriell: GM00908
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 lineGM00908
sexMale
cell typeFibroblast
family id7
family roleproband
raceCaucasian
age12 YR
affected_byCystinosis, nephropathic
collectionNIGMS Human Genetic Cell Repository
Tags
CTNS
Cystinosis, nephropathic
Description

Nephropathic cystinosis;fibroblasts show increased levels of intracellular cystine;patient has received a kidney transplant

Submission
Coriell; 2012-03-05
Accession:
SAMN00799504
ID:
799504

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