NTCC® NA05263 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA05263

Name：NTCC® NA05263 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05263
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: 12 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed at age 3; calf hypertrophy; weakness; wheelchair bound sometime before age 10; waddling gait noted at age 3; by age 5 there was toe walking, positive Gower's maneuver, tight heelcords, lumbar lordosis, contractures of the ankles, weakness of the shoulders, wrists and some weakness in grip, muscle testing of quadriceps, neck flexors and hip flexors graded as good; by age 10 there was scoliosis, ability to raise hands above head without difficulty, marked weakness of legs; son of GM05264; CPK of 17,290 and transaminase of 377 at age 5; electromyogram showed changes consistent with progressive muscular dystrophy; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a 1 bp deletion at nucleotide 7893 of the DMD gene (7893delC) resulting in a frameshift (Q2632Sfs6)
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: DMD
Disease疾病类型:
Mutations突变: 7893delC
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