Name：NTCC? NA05124 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05124
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: 16 YR
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed at age 5; calf hypertrophy; progressive weakness; did not talk until age 4; by age 7 there was mild mental retardation, waddling gait, difficulty in climbing stairs, inability to run or jump, weakness in hip extensors and quads, normal upper extremity strength; wheelchair bound by age 10; by age 15 there was mild scoliosis, marked contractures of the lower extremities, weakness of the shoulder and upper extremity muscles; affected brother is GM05125; elevated CPK; same donor as GM05123 Fibroblast; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the duplication of exons 45-62
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: EX45-62DUP
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