NTCC® NA04567 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA04567

Name：NTCC® NA04567 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04567
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: Female
Description描述: DYSTROPHIA MYOTONICA 1; DM1
Remarks: Clinically affected; first reported episode of weakness occurred at age 8, which was diagnosed as dermatomyositis; distal weakness; myopathic facies; long, thin face; clinical and electrical myotonia; occasional hand cramping; marked lid lag; distal atrophy of hands and feet; reduced muscle mass; difficulty swallowing; marked myotonic response with percussion of the tongue; absent deep tendon reflexes in ankles and knees and markedly depressed reflexes in biceps and triceps; receding hairline; EMG exam revealed "Evidence of a diffuse myopathic process which actually is maximal distally. There is also ample evidence of myotonic insertional potentials present."; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 700 in the DMPK gene; affected sister is GM05164
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: DMPK
Disease疾病类型:
Mutations突变: (CTG)n EXPANSION
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