NTCC® NA05124 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05124

Name：NTCC® NA05124 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05124
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: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed at age 5; calf hypertrophy; progressive weakness; did not talk until age 4; by age 7 there was mild mental retardation, waddling gait, difficulty in climbing stairs, inability to run or jump, weakness in hip extensors and quads, normal upper extremity strength; wheelchair bound by age 10; by age 15 there was mild scoliosis, marked contractures of the lower extremities, weakness of the shoulder and upper extremity muscles; affected brother is GM05125; elevated CPK; same donor as GM05123 Fibroblast; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the duplication of exons 45-62
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: DMD
Disease疾病类型:
Mutations突变: EX45-62DUP
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