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Coriell GM12878

Identifiers
BioSample: SAMN00801888; SRA: SRS000090; Coriell: GM12878; 1000G: NA12878; HapMap: NA12878
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
family id1463
raceCaucasian
family rolemother
cell lineGM12878
Population DescriptionUtah Residents (CEPH) with Northern and Western European ancestry
cell typeB-Lymphocyte
Super Population DescriptionEuropean
Super Population CodeEUR
culture collectionCoriell:GM12878
ethnicityUTAH/MORMON
populationCEU
sexfemale
Coriell plateHAPMAPPT01
DNA-IDNA12878
collectionNIGMS Human Genetic Cell Repository
HapMap sample IDNA12878
Tags
Ceph/utah pedigree 1463
Description

Mother;donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

Links
dbSNP Batch ID 1061891
BioProjects
PRJNA666465 Homo sapiens
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PRJEB31736 1000 Genomes Project phase 3: 30X coverage whole genome sequencing
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PRJNA376266
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PRJEB14185 Strand-Seq haplotyping
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PRJNA342471
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PRJNA325679
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PRJNA306877
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PRJNA289286 Homo sapiens
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PRJNA262923 Homo sapiens
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PRJNA248419 Homo sapiens
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PRJNA236780 Homo sapiens
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PRJNA219338 Homo sapiens
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PRJNA211074 Homo sapiens
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PRJEB2890
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PRJEB2483 NA12878 sequence data from McCarthy/McVean/Lunter
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PRJNA200694 Homo sapiens
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PRJNA196624 Homo sapiens
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PRJNA196488 Homo sapiens
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PRJNA192619 Homo sapiens
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PRJNA186949 Homo sapiens
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PRJNA167265 mixed culture
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PRJNA165019 Escherichia coli KTE171
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PRJNA162355 Homo sapiens
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PRJNA89153 Homo sapiens
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PRJNA74827 Genetic Analysis of Limb Malformation Disorders: Freeman Sheldon Exome Sequencing
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PRJNA62295 Homo sapiens strain:CEPH/UTAH PEDIGREE 1463
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PRJNA59853 Homo sapiens strain:(CEU) CEPH HapMap population
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PRJNA52009 Homo sapiens strain:CEPH/UTAH Pedigree 1463
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PRJNA50323 Homo sapiens strain:N/A
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PRJNA33831 Homo sapiens strain:(CEU) CEPH HapMap population
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PRJNA28919 Homo sapiens
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PRJNA28917 Homo sapiens
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Submission
Coriell; 2012-03-05
Accession:
SAMN00801888
ID:
801888

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