NTCC® NA02774 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02774

Name：NTCC® NA02774 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02774
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: 47 YR
Gender性别: Female
Description描述: FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA
Remarks: 50% of normal Alpha gal A, normal Alpha gal B, Xg(a) antigen +/-; two affected sons; two populations of cells, one with normal alpha-galactosidase-A activity and a second with deficient enzyme activity observed using cell sorting; donor subject is heterozygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon [Arg220Ter (R220X)]; donor is also heterozygous for three SNPs: IVS4-16A>G (rs2071397), IVS6-22C>T (rs2071228) and c.1-10C>T (rs2071225)
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GLA
Disease疾病类型:
Mutations突变: ARG220TER
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