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GM07890 female unaffected Fgh included sample

Identifiers
BioSample: SAMN00797816; Coriell: GM07890; Coriell: NA07890
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 lineGM07890
sexFemale
cell typeB-Lymphocyte
raceCaucasian
karyotype46;XX;del(13)(pter->q13::q21.3->qter)..arr 13q13.1q21.31(32302481-63967037)x1;46;XX;del(13)(pter>q12.3::q21.2>qter)
age3 YR
DNA-IDNA07890
collectionNIGMS Human Genetic Cell Repository
Tags
Esterase d
Fgh included
Chromosome deletion
Esd s-formylglutathione hydrolase included
Description

Developmental delay;growth retardation;mild facial dysmorphism;normal eye exam;50% of normal Esterase D activity in blood;46;XX;del(13)(pter>q12.3::q21.2> qter)

Submission
Coriell; 2012-03-05
Accession:
SAMN00797816
ID:
797816

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