NTCC® NA02627 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02627

Name：NTCC® NA02627 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02627
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: 3 YR
Gender性别: Female
Description描述: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Remarks: Atypical; subacute neuropathic Gaucher; myoclonus; seizures; expired at age 3 due to pneumonia; 24% of control fibroblast glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1090 in exon 8 of the GBA gene (1090G>A) resulting in a substitution of arginine for glycine at codon 325 [Gly325Arg(G325R)]; the second allele has a T>G transition at nucleotide 1141 in exon 8 (1141T>G) resulting in the substitution of glycine for cysteine at codon 342 [Cys342Gly(C342G)] [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: CYS342GLY GLY325ARG
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