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NA12878標(biāo)準(zhǔn)品介紹
Coriell的生物庫(kù)管理著世界上zui多樣化的細(xì)胞系、DNA和其他生物材料的收集和分發(fā)，供國(guó)際生物醫(yī)學(xué)研究界使用。其中，NA12878是Coriell的熱銷(xiāo)產(chǎn)品，它來(lái)自人B淋巴細(xì)胞外周靜脈血，來(lái)看看NA12878標(biāo)準(zhǔn)品的有關(guān)介紹吧！
Description:
CEPH/UTAH PEDIGREE 1463
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 | 2 |
| Relation to Proband | mother |
| Confirmation | Clinical summary/Case history |
| Species | Homo sapiens |
| 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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