NTCC® NA00852 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00852

Name：NTCC® NA00852 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00852
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: 20 YR
Gender性别: Male
Description描述: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA
Remarks: 6% of control fibroblast glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a subtitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] and a second allele has an insertion of a second guanine at cDNA nucleotide 84 [84_85insG, 84GG] (codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG).
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