NTCC® NA00059 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00059

Name：NTCC® NA00059 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00059
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: 1 YR
Gender性别: Female
Description描述: CANAVAN DISEASE | ASPARTOACYLASE; ASPA | HEXOSAMINIDASE A; HEXA
Remarks: Clinically affected; skin fibroblasts show deficient N-acetylaspartoacylase activity; for the ASPA gene, the donor subject is heterozygous for a c.914 C>A (exon 6, A305E), heterozygous for a novel c.527 C>A mutation (exon 4, G176D), and heterozygous for a c.693 C>T polymorphism (exon 5, Y231X); donor subject is also homozygous for a R249W mutation in the HEXA gene (83/17 mut/wt), associated with HEX A pseudodeficiency; similarly affected sibling (GM00060). Same subject as GM28249 (iPSC).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ASPA
Disease疾病类型:
Mutations突变: ALA305GLU GLY176ASP TYR231TER
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