GM04619 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04619 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 7; calf hypertrophy; progressive muscular weakness; wheelchair bound sometime between ages 9 and 15; by age 9 there was toe walking, absent deep tendon reflexes, lordosis, contractures of the ankles, shoulder girdle strength grade IV, extreme weakness around pelvic girdle, suggestion of myopathic facies; by age 15 there was kyphoscoliosis, difficulty in raising arms up to face, difficulty maintaining head control; son of GM04621; CPK of 10,510; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a C>T transition at nucleotide 8713 in exon 59 of the DMD gene (c.8713C>T) resulting in a stop at codon 2905 [Arg2905Ter (R2905X)]
Category分类：Fibroblast
ID编号:NTCC®-GM04619
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
Affected State:Yes
Product:Fibroblast
Gene:DMD
Mutations突变:ARG2905TER
Ethnicity:
Family:788
Relationship:proband
Karyotype:
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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