Name：NTCC? NA20124 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA20124
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 4 MO
Gender性別: 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其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GAA
Disease疾病類型:
Mutations突變: 1-BP DEL, 525T EX18DEL
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net