Name：NTCC? NA00372 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00372
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: 29 YR
Gender性別: Male
Description描述: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA
Remarks: Clinically affected; varying percentages of glucocerebrosidase activity (6%, 11.1%), B-glucosidase activity(4.1%, 16.1%), and glucosylsphingosine activity(9.6%) in this cell line have been reported in several publications - please refer to the publications tab on this sample page for more info; donor subject is a compound heterozygote for mutations in the gene encoding acid-beta glucosidase (GBA): one allele carries a single-base mutation (adenosine to guanosine transition) in exon 9 at position 1226 (1226A>G)of the glucocerebrosidase gene which results in the amino acid substitution of serine for asparagine [Asn370Ser (N370S)]; the second allele carries an insertion of a second guanine at cDNA nucleotide 84 (84GG).
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GBA
Disease疾病類型:
Mutations突變: 1-BP INS, 84G ASN370SER
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