NTCC® NA00244 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00244

Name：NTCC® NA00244 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00244
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: 5 MO
Gender性别: Female
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Infantile onset; Mexican; normal size and amount of mRNA for GAA, GAA protein detected by antibody, but deficient acid alpha-1,4 glucosidase activity (0.16%); 46,XX; donor subject is a compound heterozygote: allele one carries a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 [Arg854Ter (R854X)]; allele two carries a missense mutation caused by a T>C transition at nucleotide 953 (953T>C) in exon 5 which results in the substitution of threonine for methionine at codon 318 [Met318Thr (M318T)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GAA
Disease疾病类型:
Mutations突变: ARG854TER MET318THR
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