Name：NTCC? NA00882 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00882
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(chǔ)存方式: 4C
Species物種來源:
Age年齡: 40 YR
Gender性別: Male
Description描述: FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA
Remarks: Italian; history of proteinuria and mild fatigability; 13 to 30% of normal alpha galactosidase activity; cardiac variant; donor subject is hemizygous for a C>G transversion at nucleotide 901 in exon 6 of the GLA gene (901C>G) resulting in the substitution of glycine for arginine at codon 301 [Arg301Gly (R301G)]
Alternate IDs其他編號:
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GLA
Disease疾病類型:
Mutations突變: ARG301GLY
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