NTCC® NA04619 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04619

Name：NTCC® NA04619 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04619
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: 13 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed at age 7; calf hypertrophy; progressive muscular weakness; wheelchair bound sometime between ages 9 and 15; by age 9 there was toe walking, absent deep tendon reflexes, lordosis, contractures of the ankles, shoulder girdle strength grade IV, extreme weakness around pelvic girdle, suggestion of myopathic facies; by age 15 there was kyphoscoliosis, difficulty in raising arms up to face, difficulty maintaining head control; son of GM04621; CPK of 10,510; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a C>T transition at nucleotide 8713 in exon 59 of the DMD gene (c.8713C>T) resulting in a stop at codon 2905 [Arg2905Ter (R2905X)]
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: ARG2905TER
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