GM05835 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | TRANSLOCATED CHROMOSOME Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05835 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | TRANSLOCATED CHROMOSOME Cell Line
杜兴型肌营养不良症； DMD |易位染色体细胞株
Description描述：Clinically affected female; de novo X/autosome translocation; walked at 11 months; initial symptoms started about age 4 and included calf hypertrophy, stumbling, and falling; atrophy of quadriceps muscles; Gower's maneuver; moderate weakness of anterior tibials, quadriceps, biceps, triceps, and deltoid muscles (at age 6); muscle strength in upper extremities 3+ to 4 and 2- in lower extremities (at age 9); absent deep tendon reflexes; short stature; tight heelcords; waddling gait; mild lumbar lordosis; elevated CPK of 8,300; EMG showed polyphasic units of small amplitude and short duration; muscle biopsy showed variability in fiber diameter, with degenerating and regenerating fibers, basophilic sarcoplasm, centrally located nuclei, and increased connective tissue; normal X is late replicating; PCR analysis of dystrophin gene shows no deletion or duplication; clinically normal parents and 3 brothers.
Category分类：Fibroblast
ID编号:NTCC®-GM05835
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: Other
Age年龄:10 YR
Gender性别:Female
Cell Type细胞类型: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | TRANSLOCATED CHROMOSOME
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:CHINESE/HAWAIIAN/CAUCASIAN
Family:
Relationship:proband
Karyotype:46,X,t(X;5)(Xqter>Xp21.2::5q35.3>5qter; 5pter>5q35.3::Xp21.2>Xpter)
Tissue Type组织来源:
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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