Name：NTCC? NA05114 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05114
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: 22 YR
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed at age 10; calf hypertrophy; progressive muscle weakness; toe walking, difficulty with stairs and frequent falls noted at age 4; wheelchair bound by age 10; by age 15 there was mild scoliosis, lumbar lordosis, contractures of the elbows, ankles, hips and knees, marked weakness in upper extremities, tight heelcords; by age 20 there was inability to flex hips against gravity, inability to raise hands above head; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; affected brother is GM05112/13; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK; same donor as GM05115 (lymphocyte).
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: DMD
Disease疾病類型:
Mutations突變: EX45DEL
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