Name：NTCC? NA07947 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA07947
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 14 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: DMD
Disease疾病類型:
Mutations突變: 5'END-EX19DEL
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net