NTCC® NA20089 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20089

Name：NTCC® NA20089 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20089
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: 4 MO
Gender性别: Female
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Clinically affected; presented at age 4 months with severe obstructive hypertrophic cardiomegaly, hypotonia, failure to thrive, and global developmental delay; deficiency of acid alpha-glucosidase activity in muscle; isolated left cleft lip with intact palate; died at age 8 months; donor subject is homozygous for an intragenic deletion of exon 18 [del ex18]; mother is GM20123; both parents confirmed heterozygotes for GAA gene deletion of exon 18.
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: EX18DEL
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