NTCC® NA07947 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA07947

Name：NTCC® NA07947 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA07947
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: 14 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850 | DYSTROPHIN; DMD | CHROMOSOME DELETION
Remarks: Clinically affected with DMD, as well as chronic granulomatous disease, retinitis pigmentosa, and mental retardation; hepatosplenomegaly and lymphadenopathy noted at six months; recurrent pyoderma; respiratory infections; febrile episodes; recurrent suppurative lymphadenitis, osteomyelitis, and pneumonia; McLeod red cell phenotype; diffuse atrophy of retinal pigment epithelium and intraretinal pigment clumpng at age 2; retinal vessel attenuation; visual acuity 20/100 OD and 20/40+ OS; atrophy of macula with cystoid macular edema and drusen of the disc; severely constricted visual fields; ERG showed no detectable rod or cone responses; idiopathic intestinal pseudoobstruction; stood with support at age 2; walked short distances at 3 1/2 years; wide-based gait; weakness of proximal and distal muscles of upper and lower extremities; wheelchair bound at age 12; pseudohypertrophy of calf muscles; EMG consistent with a myopathy; muscle biopsy showed diffuse loss of muscle fibers and replacement by fibrous and adipose tissue and marked variation in fiber size on cross sections; elevated CPK of 1,039; 46, Y,del(X)(Xpter>Xp21.3::Xp21.1>Xqter) by molecular analysis; dystrophin gene deletion from outside 5' end through at least exon 19, exon 44 is not deleted.
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: 5'END-EX19DEL
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