手機版
化工儀器網(wǎng)手機版
化工儀器網(wǎng)小程序
官方微信
公眾號：chem17
掃碼關(guān)注視頻號
Coriell的生物庫管理著世界上zui多樣化的細胞系、DNA和其他生物材料的收集和分發(fā)，供國際生物醫(yī)學(xué)研究界使用。其中，NA12878是Coriell的熱銷產(chǎn)品，它來自人B淋巴細胞外周靜脈血，來看看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. |
更多有關(guān)Coriell NA12878標(biāo)準(zhǔn)品的介紹，請聯(lián)系Coriell NA12878標(biāo)準(zhǔn)品代理——北京百奧創(chuàng)新科技有限公司客服！
相關(guān)產(chǎn)品
免責(zé)聲明
- 凡本網(wǎng)注明“來源：化工儀器網(wǎng)”的所有作品，均為浙江興旺寶明通網(wǎng)絡(luò)有限公司-化工儀器網(wǎng)合法擁有版權(quán)或有權(quán)使用的作品，未經(jīng)本網(wǎng)授權(quán)不得轉(zhuǎn)載、摘編或利用其它方式使用上述作品。已經(jīng)本網(wǎng)授權(quán)使用作品的，應(yīng)在授權(quán)范圍內(nèi)使用，并注明“來源：化工儀器網(wǎng)”。違反上述聲明者，本網(wǎng)將追究其相關(guān)法律責(zé)任。
- 本網(wǎng)轉(zhuǎn)載并注明自其他來源（非化工儀器網(wǎng)）的作品，目的在于傳遞更多信息，并不代表本網(wǎng)贊同其觀點和對其真實性負責(zé)，不承擔(dān)此類作品侵權(quán)行為的直接責(zé)任及連帶責(zé)任。其他媒體、網(wǎng)站或個人從本網(wǎng)轉(zhuǎn)載時，必須保留本網(wǎng)注明的作品第一來源，并自負版權(quán)等法律責(zé)任。
- 如涉及作品內(nèi)容、版權(quán)等問題，請在作品發(fā)表之日起一周內(nèi)與本網(wǎng)聯(lián)系，否則視為放棄相關(guān)權(quán)利。
采購中心