NTCC® NA01260 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01260

Name：NTCC® NA01260 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01260
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: 11 MO
Gender性别: Female
Description描述: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Remarks: Splenomegaly; opisthotonos: expired at age 1; 3% of control fibro glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 1448 in exon 10 of the GBA gene (1448T>C) resulting in the substitution of proline for leucine at codon 444 [Leu444Pro (L444P)]; the second allele has a C>G transversion at nucleotide 1361 in exon 9 (1361C>G) resulting in the substitution of arginine for proline at codon 415 [Pro415Arg (P415R)] [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: LEU483PRO (LEU444PRO), 1448T>C PRO415ARG, 5976C>G
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