Name：NTCC? NA05112 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05112
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: 13 YR
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed with neuromuscular disease at age one; progressive proximal weakness; calf hypertrophy; normal IQ; at age six there was toe walking, tight heelcords, limited range of motion in ankles and hip extension, good trunk strength, hamstring tightness, lumbar lordosis; by age nine there was a modified Gower's maneuver, gluteal gait, absent deep tendon reflexes, intact antigravity muscles in upper extremities, weakness of lower extremities, quads 2/5, knee extensor 2/5, knee flexors 3/5, weakness to ankle extensor more so than flexion, diminishment of pulmonary function; became wheelchair bound between ages 9 and 11; at age 11 there was progressive weakness in lower extremities, contractures at knees, hips and ankles, bicep and tricep strength grade IV+ bilaterally; ability to raise arms above head without difficulty; affected brother is GM05114/15; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK at age 1; muscle biopsy at age 10 revealed characteristic picture of a myopathy of the Duchenne muscular dystrophy type; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; same donor as GM05113 (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
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