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   Coriell Institute　作为已被国际认可的权威机构，致力于为个性化医疗和干细胞生物学快速发展做出贡献。其中，Biobank的人类基因组DNA标准品，已广泛应用被国内各大知名基因公司及科研单位所信赖。比如，北京信诺佰世医学检验所、安诺优达基因科技（北京）有限公司、北京中仪康卫医疗器械有限公司、华大基因等。

 

　　其中，NA12878 在国内也已成为基因组测序行业的标准。例如，北京博奥晶典生物技术有限公司 10X Genomics全基因组重测序解决方案，用　NA12878 做的分型检测 （NA12878 trio分析）和NA12878的基因组缺失检测。

 

以NA12878 为例，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.

 

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

另有库存细胞：GM03576、GM04126、GM09596、GM10160、GM12878 等等