Name：NTCC? NA05263 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05263
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 12 YR
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Remarks: Clinically affected with Duchenne muscular dystrophy; diagnosed at age 3; calf hypertrophy; weakness; wheelchair bound sometime before age 10; waddling gait noted at age 3; by age 5 there was toe walking, positive Gower's maneuver, tight heelcords, lumbar lordosis, contractures of the ankles, weakness of the shoulders, wrists and some weakness in grip, muscle testing of quadriceps, neck flexors and hip flexors graded as good; by age 10 there was scoliosis, ability to raise hands above head without difficulty, marked weakness of legs; son of GM05264; CPK of 17,290 and transaminase of 377 at age 5; electromyogram showed changes consistent with progressive muscular dystrophy; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a 1 bp deletion at nucleotide 7893 of the DMD gene (7893delC) resulting in a frameshift (Q2632Sfs6)
Alternate IDs其他編號:
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: DMD
Disease疾病類型:
Mutations突變: 7893delC
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
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