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GM06830 male affected Aniridia: types 1 or 2 - 106200 or 106210 sample

Identifiers
BioSample: SAMN00796889; Coriell: GM06830
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 lineGM06830
sexMale
cell typeB-Lymphocyte
raceCaucasian
karyotype46;XY
age4 YR
affected_byAniridia: types 1 or 2 - 106200 or 106210
collectionNIGMS Human Genetic Cell Repository
Tags
Aniridia: types 1 or 2 - 106200 or 106210
Description

Clinically affected;bilateral aniridia;pupils were noted to be large at birth and were non-reactive to light;no nystagmus;discs somewhat grayish;hypoplastic maculae;dolichocephaly;bilateral clubfoot;small hydrocele;renal ultrasound normal;no Wilm's tumor at age 4 years;intellectually normal;normal catalase;no 11p deletion.

Submission
Coriell; 2012-03-05
Accession:
SAMN00796889
ID:
796889

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