GM10382 male affected Chromosome deletion sample - BioSample - NCBI

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GM10382 male affected Chromosome deletion sample

Identifiers: BioSample: SAMN00799971; Coriell: GM10382

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 line	GM10382
sex	Male
cell type	Fibroblast
family id	1205
family role	proband
race	Caucasian
karyotype	46;XY;del(22)(pter>q11.21::q11.23>qter)
affected_by	Chromosome deletion
collection	NIGMS Human Genetic Cell Repository

Tags: DGS
Digeorge syndrome
Chromosome deletion

Description: Clinically affected;truncus arteriosus;Type I;ventricular septal defect;right sided aortic arch;hypocalcemia;thymic and parathyroid hypoplasia at autopsy;hypertelorism;low-set ears;parents are GM10383 and GM10384;parents have normal karyotypes;passage 3 at CCR

Submission: Coriell; 2012-03-05

Accession:: SAMN00799971
ID:: 799971

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GM10382 male affected Chromosome deletion sample
GM10382 male affected Chromosome deletion sample

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LinkOut to external resources

GM10382 (CVCL_0I28) [Cellosaurus - a cell line kno...]
GM10382 (CVCL_0I28)
Cellosaurus - a cell line knowledge resource

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