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Coriell人类基因组DNA标准品(NA12878)现货供应
- 品牌：Coriell Institute
- 产地：中国
- 型号：25 μg
- 货号：NA12878
- 价格： ￥20/盒
- 发布日期： 2024-03-05
- 更新日期： 2024-08-12
产品详请
| 产地 | 中国 |
| 品牌 | Coriell Institute |
| 货号 | NA12878 |
| 用途 | 详询 |
| 包装规格 | 25 μg |
| 是否进口 | 否 |
Repository
NIGMS Human Genetic Cell Repository
Subcollection
CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample
Quantity
25 μg
Quantitation Method
Please see our FAQ
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
DNA from LCL
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.
| Repository | NIGMS Human Genetic Cell Repository |
| Subcollection |
CEPH Repository Linkage Families Pharmacogenetics PIGI Consented Sample |
| Quantity | 25 μg |
| Quantitation Method | Please see our FAQ |
| Biopsy Source | Peripheral vein |
| Cell Type | B-Lymphocyte |
| Tissue Type | Blood |
| Transformant | Epstein-Barr Virus |
| Sample Source | DNA from LCL |
| 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. |
