NTCC® NA05152 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05152

Name：NTCC® NA05152 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05152
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: 50 YR
Gender性别: Male
Description描述: DYSTROPHIA MYOTONICA 1; DM1
Remarks: Clinically affected; weakness in hands noted at age 43; pain in calf muscles after walking and fatigue in legs; problems with balance; palmar erythema on the hands; slight ataxia in lower extremities; slight lordosis; hypoactive reflexes; weakness in all extremity muscles; abnormal esophageal motility; long, thin face; thin extremities and thin chest; weakness of neck flexion; myotonia; myopathic facies; muscle biopsy showed "type I fiber atrophy which is characteristic of myotonic dystrophy"; EMG exam was "consistent with a polyneuropathy and tardy ulnar palsy"; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1500 in the DMPK gene; see GM05151 fibroblast
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