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GM03733 male unaffected Chromosome deletion sample

Identifiers
BioSample: SAMN00808514; Coriell: GM03733
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 lineGM03733
sexMale
cell typeFibroblast
raceCaucasian
karyotype46;XY;del(7)(pter>q34:)
age7 YR
collectionNIGMS Human Genetic Cell Repository
Tags
Chromosome deletion
Description

Growth and psychomotor retardation;mild dysmorphic features;bilateral coloboma of retina and choroidea;normal factor XII (Hageman) level

Submission
Coriell; 2012-03-05
Accession:
SAMN00808514
ID:
808514

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