Name：NTCC? NA00852 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00852
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: 20 YR
Gender性別: Male
Description描述: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA
Remarks: 6% of control fibroblast glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a subtitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] and a second allele has an insertion of a second guanine at cDNA nucleotide 84 [84_85insG, 84GG] (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: Fibroblast
Source組織來源: Fibroblast
Gene: GBA
Disease疾病類型:
Mutations突變: 1-BP INS, 84G 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