Name：NTCC? NA16000 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16000
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: 33 YR
Gender性別: Female
Description描述: COAGULATION FACTOR II; F2 | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
Remarks: Clinically affected; hyperprothrombinemia; donor subject is homozygous for the G-to-A transition at position 20210 of the prothrombin gene (20210G>A); donor subject is also heterozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene [187C>G] resulting in a substitution of aspartic acid for histidine at codon 63 [His63Asp (H63D)]; donor subject is 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)]
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: F2 HFE MTHFR
Disease疾病類型:
Mutations突變: 20210G>A 677C>T HIS63ASP
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