NTCC® NA20400 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20400

Name：NTCC® NA20400 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20400
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: 36 YR
Gender性别: Male
Description描述: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A | POLYMERASE, DNA, GAMMA; POLG
Remarks: Clinically unaffected; donor subject is heterozygous for a G>A transition at nucleotide 1399 in exon 7 of the POLG gene (c.1399G>A) resulting in the substitution of threonine for alanine at codon 467 [Ala467Thr (A467T)]; son died at one year of age with clinical picture of Alpers syndrome with mitochondrial depletion and COX deficiency; spouse is GM20399; proband not in Repository.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: POLG
Disease疾病类型:
Mutations突变: ALA467THR
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