NTCC® NA25268 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25268

Name：NTCC® NA25268 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25268
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: 16 YR
Gender性别: Female
Description描述: MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 | SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4
Remarks: Clinically affected; diagnosed at 16 years of age; hypertrophic cardiomyopathy; progressive myocardial thickening, hyperalaninemia, lactic acidosis, exercise intolerance and persistent adrenergic activation; Sanger sequencing revealed homozygous frameshift null mutation of the SLC25A4 gene (c.523delC, p.Q175RfsX38); this mutation removes over a third of the C terminus of the adenosine nucleotide translocator-1,ANT1 polypeptide, rendering the subject as ANT1 null (ANT1 -/-). ANT1 is the predominant isoform in heart and skeletal muscle [refer to publication by Strauss et al, PMID: 23401503]; positive family history.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SLC25A4
Disease疾病类型:
Mutations突变: c.523delC; p.Q175RfsX38
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