NTCC® NA01607 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01607

Name：NTCC® NA01607 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01607
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 30 YR
Gender性别: 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其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GBA
Disease疾病类型:
Mutations突变: ASN370SER VAL394LEU, 1297G>T
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net