NTCC® NA05127 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA05127

Name：NTCC® NA05127 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05127
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: 18 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed sometime before age 9; calf hypertrophy; progressive weakness; wheelchair bound sometime before age 12 but exact age at dependence is unknown; by age 12 there was mild scoliosis, lumbar lordosis, contractures of the knees, ankles, elbows and hips, marked weakness in the upper extremities, tight heelcords and hamstrings; muscle strength testing at age 12: quadriceps and biceps are antigravity bilaterally, hip flexors poor bilaterally, left shoulder flexor is antigravity and right is poor, shoulder abductors poor, neck flexors poor, neck extensors fair; by age 18 there was progressive deterioration of functioning, moderate scoliosis and only one arm could be raised to the chin; affected brother is GM05128; elevated CPK; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a G>T transversion at nucleotide 5533 of the DMD gene (c.5533G>T) resulting in a stop at codon 1845 [Glu1845Ter (E1845X)]
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: GLU1845TER
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