Name：NTCC? NA20091 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20091
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: 2 MO
Gender性別: Male
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Clinically affected; presented at birth with bilateral severe cleft lip and palate, deep sacral dimple, and bilateral hydrocele; hypertrophic cardiomyopathy; hypotonia, head lag, and hepatomegaly noted at age 2 months; deficiency of acid alpha-glucosidase in fibroblasts (0.2 versus control of 31 nmoles substrate hydrolyzed/mg protein); high-resolution chromosomes normal; died at age 14 months; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 172 in exon 2 of the GAA gene [172C>T] resulting in a substitution of a termination codon for glutamine at codon 58 [Gln58Stop(Q58X)] 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:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GAA
Disease疾病類型:
Mutations突變: 1-BP DEL, 525T GLN58TER
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