GM05112 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05112 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD Skin, Unspecified Cell Line
杜兴型肌营养不良症； DMD |肌营养不良蛋白； DMD细胞株
Description描述：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).
Category分类：Fibroblast
ID编号:NTCC®-GM05112
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:13 YR
Gender性别:Male
Cell Type细胞类型: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD
Affected State:Yes
Product:Fibroblast
Gene:DMD
Mutations突变:EX45DEL
Ethnicity:
Family:282
Relationship:proband
Karyotype:arr[hg19] Xp21.1(31,959,887-32,118,084)x0_x000D_
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
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