NTCC® NA00372 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00372

Name：NTCC® NA00372 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00372
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 29 YR
Gender性别: 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其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GBA
Disease疾病类型:
Mutations突变: 1-BP INS, 84G ASN370SER
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net