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GM00130 male unaffected Apparently healthy non-fetal tissue sample

Identifiers
BioSample: SAMN00794828; Coriell: GM00130; Coriell: NA00130
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 lineGM00130
sexMale
cell typeB-Lymphocyte
family id700
family roleproband
raceCaucasian
karyotype46;XY
age25 YR
DNA-IDNA00130
GeneCFTR
MutationMET470VAL
collectionNIGMS Human Genetic Cell Repository
Tags
CFTR
Cystic fibrosis transmembrane conductance regulator
Apparently healthy non-fetal tissue
Description

46;XY;negative for T cell 65;000 MW glycoprotein;positive for sIg and Ia (B cell) antigen;4% of cells show random chromosome loss/gain;donor subject has a deletion of T at 375-36 in intron 23 of the CFTR gene (4375-36delT) and is also homozygous for the CFTR polymorphism: Met>Val at amino acid 470 Met470Val (M470V);A>G at nucleotide 1540 in exon 10;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

Submission
Coriell; 2012-03-05
Accession:
SAMN00794828
ID:
794828

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