NTCC® NA06077 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA06077

Name：NTCC® NA06077 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA06077
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: 4 YR
Gender性别: Female
Description描述: DYSTROPHIA MYOTONICA 1; DM1
Remarks: Clinically affected; diagnosed shortly after birith; delivered prematurely (breech) and weighed 5 pounds 9 ounces; vigorous resuscitation required and on respirator for approximately three months after birth; hypotonia at birth; scoliosis developed at approximately 4 months of age and required body brace; by age 2 there was delay in communication skills, inability to sit without support, delayed fine motor adaptive skills, difficulty maintaining head control, delayed milestones; high-arched palate; thin, long face with moderate facial weakness; inability to completely close eyelids; thin, elongated head; hypertelorism; little facial movement; bilateral nonobligatory tonic neck responses; reduced muscle tone and reduced muscle bulk in all extremities; clinical and electrical myotonia; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1600 (minor species at 2400) in the DMPK gene; affected mother is GM04608; affected sister is GM04601; maternal grandfather is GM06075; see GM04602 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