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GM09888 female affected Trps2 (langer-giedion syndrome sample

Identifiers
BioSample: SAMN00799583; Coriell: GM09888; Coriell: NA09888
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 lineGM09888
sexFemale
cell typeB-Lymphocyte
raceCaucasian
karyotype46;XX;del(8)(pter->q23::q24.1->qter).arr 1q23.3(159775402-159923110)x3;8p23.1(7241689-7814569)x3;8q23.1q24.12(107189214-119363784)x1;14q22.1(49891851-50724999)x1;22q11.21(17256416-17420071)x3;46;XX;del(8)(pter>q23::q24.13>qter)
age8 YR
DNA-IDNA09888
affected_byTrps2 (langer-giedion syndrome
collectionNIGMS Human Genetic Cell Repository
Tags
Trichorhinophalangeal syndrome type ii
Copy number variation (cnv) reference panel
Chromosome deletion
LGS)
Trps2 (langer-giedion syndrome
Description

Facial asymmetry;multiple exostoses;sparse hair;speech problems;weight;height;and head circumference below the 3rd %ile;46;XX;del(8)(pter>q23::q24.13>qter)

Submission
Coriell; 2012-03-05
Accession:
SAMN00799583
ID:
799583

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