Name：NTCC? NA06314 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA06314
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: 40 YR
Gender性別: Female
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Adult onset; respiratory arrest; muscle weakness onset at age 35; GAA mRNA showed two bands: one normal size band (3.6 kb) of half-normal amount and one band of reduced amount and size (approximately 3 kb); alpha-1,4 glucosidase deficiency: 1-2% of normal activity in lymphoblasts; similarly affected sister; donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G); the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon; allele two which contains a rare mutation has a G>C transversion at position +1 in intron 10 (IVS10+1G>C) which results in the splicing out of exon 10 including part of the enzyme catalytic site
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: GAA
Disease疾病類型:
Mutations突變: IVS10+1G>C IVS1AS, T>G, -13
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