GM05263杜兴型肌营养不良症； DMD 皮肤，未特指成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05263 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Skin, Unspecified Cell Line
杜兴型肌营养不良症； DMD细胞株
Description描述：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)
Category分类：Fibroblast
ID编号:NTCC®-GM05263
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:12 YR
Gender性别:Male
Cell Type细胞类型: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Affected State:Yes
Product:Fibroblast
Gene:DMD
Mutations突变:7893delC
Ethnicity:
Family:767
Relationship:proband
Karyotype:arr(1-22)x2,(XY)x1
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
NTCC典型培养物保藏中心
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