NTCC® NA01960 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01960

Name：NTCC® NA01960 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01960
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: 15 YR
Gender性别: Female
Description描述: VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED | TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA
Remarks: Clinically affected with Friedreich-like ataxia; marked weakness; hypotonia; cerebellar deficit; sensory deficit; abolished muscle stretch reflexes; for this donor subject the GAA triplet repeat expansion in the first intron of the frataxin gene is within the normal range for both alleles; donor subject is homozygous for a C>T transition at nucleotide 661 of the TTPA gene resulting in an arg to trp substitution at codon 221 [Arg221Trp (R221W)]; similarly affected brother (not in repository); slow growing culture;
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: TTPA
Disease疾病类型:
Mutations突变: ARG221TRP
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