NTCC® NA16864 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16864

Name：NTCC® NA16864 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16864
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: 57 YR
Gender性别: Male
Description描述: EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1 | EMERIN; EMD
Remarks: Clinically affected; deceased at age 60 from arrhythmia; well until adulthood, then slowly progressive proximal muscle weakness; cardiomyopathy with heart blockage; elbow contractures; no family history; donor subject has a five bp insertion in exon 6 at nucleotide 1712 (1712-1713insTGGGC) of the emerin (EMD) gene, resulting in a frameshift and a stop codon at amino acid 238.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: EMD
Disease疾病类型:
Mutations突变: 1712insTGGGC
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