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GM21675 female affected Neurofibromatosis type i sample

Identifiers
BioSample: SAMN00806020; Coriell: GM21675
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 lineGM21675
sexFemale
cell typeFibroblast
family id2688
family roleproband
raceCaucasian
age11 YR
affected_byNeurofibromatosis type i
collectionNIGMS Human Genetic Cell Repository
Tags
NF1
Neurofibromatosis type i
Description

Clinically affected;no family history;Lisch nodules;hypertension;pseudoarthrosis;thinning of long bone cortex;cafe-au-lait spots;axillary freckling;see GM21674 Lymphoid

Submission
Coriell; 2012-03-05
Accession:
SAMN00806020
ID:
806020

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