Name：NTCC? NA20089 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20089
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 4 MO
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GAA
Disease疾病類型:
Mutations突變: EX18DEL
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net