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   Coriell Institute　作為已被國際認可的權威機構，致力于為個性化醫療和干細胞生物學快速發展做出貢獻。其中，Biobank的人類基因組DNA標準品，已廣氾應用被國內各大知名基因公司及科研單位所信賴。比如，北京信諾佰世醫學檢驗所、安諾優達基因科技（北京）有限公司、北京中儀康衛醫療器械有限公司、華大基因等。

 

　　其中，NA12878 在國內也已成為基因組測序行業的標準。例如，北京博奧晶典生物技術有限公司 10X Genomics全基因組重測序解決方案，用　NA12878 做的分型檢測 （NA12878 trio分析）和NA12878的基因組缺失檢測。

 

以NA12878 為例，展示如下：

 

Website： https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=NA12878&Product=DNA

NA12878   DNA from LCL

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

Gender: Female

Age: No Data

Repository: NIGMS Human Genetic Cell Repository

Subcollection: CEPH

                 Repository Linkage Families

                 Pharmacogenetics

                 PIGI Consented Sample

Quantity: 50 µg

Quantitation: MethodPlease see our FAQ

Biopsy Source: Peripheral vein

Cell Type: B-Lymphocyte

Tissue Type: Blood

Transformant: Epstein-Barr Virus

Race: Caucasian

Ethnicity: UTAH/MORMON

Country of Origin: USA

Family Member: 2

Relation to Proband: mother

Confirmation: Clinical summary/Case history

ISCN: 46,XX[23].arr[hg19] 9p13.1(38,787,480-40,911,212)x3

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.

 

庫存：NA12878、NA17195、NA00472、NA22031、NA16718、NA24385 、HG00096 等等

另有庫存細胞：GM03576、GM04126、GM09596、GM10160、GM12878 等等