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GM10995 male affected Translocated chromosome sample

Identifiers
BioSample: SAMN00800395; Coriell: GM10995; Coriell: NA10995
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 lineGM10995
sexMale
cell typeFibroblast
family id1315
family roleproband
raceCaucasian
karyotype46;XY;der(11)(11pter> 11q25::1q31.2>1qter)pat
age1 DA
DNA-IDNA10995
affected_byTranslocated chromosome
collectionNIGMS Human Genetic Cell Repository
Tags
Translocated chromosome
Description

Expired 45 minutes post delivery with multicystic dysplasia of kidneys;IUGR;atrial septal defect;persistent left superior vena cava and malpositioned hair whorl;sister and father;GM10958 and GM10960 Lymph;have the balanced translocation

Submission
Coriell; 2012-03-05
Accession:
SAMN00800395
ID:
800395

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