15522676233
15522676233
技术文章
更新时间：2023-08-07
点击次数：2663
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！
| 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. |
更多有关Coriell NA12878标准品的介绍，请联系Coriell NA12878标准品代理——北京百奥创新科技有限公司客服！
当前位置：
上一个：
返回列表
