Name：NTCC? NA10870 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA10870
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: 63 YR
Gender性別: Female
Description描述: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA
Remarks: Ashkenazi; mild splenomegaly; about 12% of normal acid B-glucosidase activity in lymphoid culture; donor subject is homozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] (codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG).
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: GBA
Disease疾病類型:
Mutations突變: ASN370SER
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