Name：NTCC? NA16028 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16028
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 64 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: F2 F5 HFE MTHFR
Disease疾病類型:
Mutations突變: 20009404T>C 20210G>A 677C>T SER65CYS
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net