Name：NTCC? HM12878 B-Lymphocyte High Molecular Weight DNA
Category分類：High Molecular Weight DNA
Cat#貨號(hào):NTCC?-Coriell HM12878
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡:
Gender性別: Female
Description描述: 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
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.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: B-Lymphocyte
Source組織來源: B-Lymphocyte
Gene:
Disease疾病類型:
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Mutation description突變描述:
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References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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