GM12145 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample
Homo sapiens
Paternal Grandmother;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.
cell_line
GM12145
DNA-ID
NA12145
sex
Female
cell_type
B-Lymphocyte
family_id
1334
family_role
paternal grandmother
Race
Caucasian
Ethnicity
UTAH/MORMON
collection
NIGMS Human Genetic Cell Repository
tag
Cytochrome p450, subfamily iic, polypeptide 19
tag
Cyp2c19
tag
Ceph/utah pedigree 1334
tag
International hapmap project - ceph utah residents with ancestry from northern and western europe
tag
International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe