NTCC® NA12212 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA12212

Name：NTCC® NA12212 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA12212
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: 3 YR
Gender性别: Male
Description描述: PYRUVATE DECARBOXYLASE DEFICIENCY | PYRUVATE DEHYDROGENASE COMPLEX E1-ALPHA POLYPEPTIDE 1; PDHA1
Remarks: PDC activity <10% of controls in lymphocytes but normal in cultured skin fibroblasts; expired at age 3; abnormal neuromuscular development and lactic acidosis; E1 component deficient in liver, skeletal muscle, and heart; similarly affected brother; passage 3 at CCR; donor subject has a hemizygous point mutation at nucleotide 832 in exon 7 of the PDHA1 gene resulting in the substitution of glycine for arginine at codon 234 [Arg234Gly (R234G)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: PDHA1
Disease疾病类型:
Mutations突变: ARG234GLY
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