NTCC® NA16028 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16028

Name：NTCC® NA16028 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16028
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 64 YR
Gender性别: Female
Description描述: COAGULATION FACTOR II; F2 | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | FACTOR V DEFICIENCY | HEMOCHROMATOSIS; HFE | HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
Remarks: Deep vein thrombosis; Donor subject is heterozygous for the G-to-A transition at position 20210 of the prothrombin gene (20210G>A); heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]; heterozygous for a G>A transition at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a substitution of glutamine for arginine at codon 506 [Arg506Gln (R506Q)]; heterozygous for an A>T transversion at nucleotide 193 in exon 2 of the HFE (HLA-H) gene [193A>T] resulting in a substitution of cysteine for serine at codon 65 [Ser65Cys (S65C)]; family history: one daughter had postpartum thrombosis.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: F2 F5 HFE MTHFR
Disease疾病类型:
Mutations突变: 20009404T>C 20210G>A 677C>T SER65CYS
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net