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GM13363 female affected MPZ sample

Identifiers
BioSample: SAMN00802332; Coriell: GM13363
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 lineGM13363
sexFemale
cell typeB-Lymphocyte
raceCaucasian
ethnicityIRISH
age32 YR
GeneMPZ
affected_byMPZ
MutationASP90GLU
collectionNIGMS Human Genetic Cell Repository
Tags
Charcot-marie-tooth disease 1b
MPZ
Myelin protein zero
CMT1B
Description

Type 1b;marked peripheral neuropathy with slow nerve conduction velocities;pedigree shows 8 affecteds in 4 generations;heterozygous for a C to A mutation at position 270 (270C>A) Asp90Glu (D90E) in myelin glucoprotein P-zero P(0) gene

Submission
Coriell; 2012-03-05
Accession:
SAMN00802332
ID:
802332

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