Name：NTCC? NA01607 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA01607
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: 30 YR
Gender性別: Male
Description描述: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA
Remarks: Hepatosplenomegaly since age 17; typical Gaucher's cells observed in bone marrow aspirant; 18% of control fibro 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 substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] and a second allele has a G>T transversion at nucleotide 1297 in exon 9 of the GBA gene [1297G>T] resulting in a substitution of leucine for valine at codon 394 [Val394Leu (V394L)];negative family history.
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: ASN370SER VAL394LEU, 1297G>T
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