GM11601 male affected Neurofibromatosis type i sam... - BioSample - NCBI

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GM11601 male affected Neurofibromatosis type i sample

Identifiers: BioSample: SAMN00800733; Coriell: GM11601; Coriell: NA11601

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 line	GM11601
sex	Male
cell type	B-Lymphocyte
race	Caucasian
age	31 YR
DNA-ID	NA11601
Gene	NF1
affected_by	Neurofibromatosis type i
Mutation	ALU INS
collection	NIGMS Human Genetic Cell Repository

Tags: NF1
Neurofibromatosis type i

Description: Multiple cervical nerve root neurofibromas;1 peripheral neurofibroma;macrocephaly;Lisch nodules;no cafe au lait spots or freckling;de novo insertion of an Alu repetitive element close to exon 6 of NF1 gene leading to abnormal gene splicing

Submission: Coriell; 2012-03-05

Accession:: SAMN00800733
ID:: 800733

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