coriell的生物库管理着世界上zui多样化的细胞系、dna和其他生物材料的收集和分发，供国际生物医学研究界使用。其中，na12878是coriell的热销产品，它来自人b淋巴细胞外周静脉血，来看看na12878标准品的有关介绍吧！
description:
ceph/utah pedigree 1463international hapmap project - ceph (plate i) [utah residents with ancestry from northern and western europe]cytochrome p450, subfamily iic, polypeptide 19; cyp2c19international hapmap project - ceph [utah residents with ancestry from northern and western europe]na custom service plate 01
affected:
no data
sex:
female
age:
no data
repository nigms human genetic cell repository
subcollection cephrepository linkage familiespharmacogeneticspigi consented sample
quantity 25 µg
biopsy source peripheral vein
cell type b-lymphocyte
tissue type blood
transformant epstein-barr virus
race white
ethnicity utah/mormon
country of origin usa
family member 2
relation to proband mother
confirmation clinical summary/case history
species homosapiens
common name human
remarks 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.
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