Coriell人类基因组DNA标准品NA12717

Description：CEPH/UTAH PEDIGREE 1358

INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
INTERNATIONAL 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：CEPH
Repository Linkage Families
Pharmacogenetics
PIGI 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：12

Relation to Proband：paternal grandmother

Confirmation：Clinical summary/Case history

Species：Homo sapiens

Common Name：Human

Remarks：Paternal Grandmother; donor subject is homozygous for 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.