NTCC® NA00877 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00877

Name：NTCC® NA00877 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00877
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: 1 YR
Gender性别: Male
Description描述: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Remarks: expired at age 1; hepatosplenomegaly; strabismus; trismus; 4% of cont fibroblast glucocerebrosidase activity; donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444, Pro for Leu [Leu444Pro (L444P)]; 1 allele has 2 additional base substitutions: 1483G>C and 1497G>C [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: LEU444PRO; ALA456PRO; VAL460VAL LEU483PRO (LEU444PRO), 1448T>C
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