Name：NTCC? NA05127 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05127
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: 18 YR
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed sometime before age 9; calf hypertrophy; progressive weakness; wheelchair bound sometime before age 12 but exact age at dependence is unknown; by age 12 there was mild scoliosis, lumbar lordosis, contractures of the knees, ankles, elbows and hips, marked weakness in the upper extremities, tight heelcords and hamstrings; muscle strength testing at age 12: quadriceps and biceps are antigravity bilaterally, hip flexors poor bilaterally, left shoulder flexor is antigravity and right is poor, shoulder abductors poor, neck flexors poor, neck extensors fair; by age 18 there was progressive deterioration of functioning, moderate scoliosis and only one arm could be raised to the chin; affected brother is GM05128; elevated CPK; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a G>T transversion at nucleotide 5533 of the DMD gene (c.5533G>T) resulting in a stop at codon 1845 [Glu1845Ter (E1845X)]
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: GLU1845TER
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
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