NA12878標準品介紹

更新時間：2023-08-07

點擊次數(shù)：3227

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標準品的有關介紹吧！

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

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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