Name：NTCC? NA14702 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA14702
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 43 YR
Gender性別: Male
Description描述: HEMOCHROMATOSIS; HFE | PROTEASE INHIBITOR 1; PI
Remarks: Serum ferritin 1526 ng/ml; serum iron 151 mcg/dl; transferrin saturation 92%; cirrhosis and history of alcoholism; awaiting new liver; heterozy alpha-1-antitrypsin; Pi type MZ in serum; donor subject is MZ; the Z allele results from a G>A transition at nucleotide 9989 in exon 5 of the SERPINA1 gene [9989G>A] resulting in a substitution of lysine for glutamic acid at codon 342 [Glu342Lys (E342K)]; negative for C282Y and H63D mutations of the HFE (HLA-H) gene
Alternate IDs其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: PI
Disease疾病類型:
Mutations突變: GLU342LYS ON M1A
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
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
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net