NTCC® NA04100 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA04100

Name：NTCC® NA04100 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04100
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: 10 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed at age 6; calf hypertrophy; progressive muscle weakness; began walking at age one but weakness noticed by 2-3 years of age; by age 6 there was lumbar lordosis, waddling gait, shoulder girdle weakness, positive Gower's maneuver, active and symmetric deep tendon reflexes; by age 9 there was proximal muscle weakness that showed marked deterioration since previous evaluations; by age 10 there was toe walking, decreased deep tendon reflexes, proximal weakness of shoulder and hip girdles, atrophy around shoulder girdle muscles with winging of the scapula; onset of speech was delayed, cognitive evaluation revealed learning disability in the areas of language and reading, non-reader at age 10; 3 maternal uncles died from progressive weakness between ages 17-23; son of GM04099; CPK over 11,000; muscle biopsy confirmed Duchenne muscular dystrophy; electromyogram showed myopathy; donor subject has a deletion of exons 49-52 in the dystrophin gene as determined by multiplex PCR
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: EX49-52DEL
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