NTCC® NA20124 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20124

Name：NTCC® NA20124 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20124
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: Male
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Clinically affected; classic infantile onset with cardiomegaly; hypertrophic cardiomyopathy; classic EKG findings; macroglossia; hypotonia; glycogen storage in lysosomes; alpha glucosidase activity = 0.0 ug/mg prot/hr (normal = 137.1 to 1025.9); donor subject is a compound heterozygote: one allele has an intragenic deletion of exon 18 [del ex18] and a second allele has a single nucleotide deletion (threonine) at position 525 in exon 2 of the GAA gene [del525T].
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: 1-BP DEL, 525T 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