GM03429 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03429 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD 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; Canadian Repository #466; negative family history; walked at age 20 1/2 months; talked at 30 months; difficulty walking up stairs and difficulty running noted since age 3; wide-based and waddling gait; Gower's maneuver; depressed reflexes; wasting of shoulder muscles and slight thigh wasting; decreased muscle tone, particularly in the legs; progressive proximal muscle weakness; relatively normal strength in distal muscles; calf hypertrophy; scoliosis; lumbar lordosis; grade 2/6 systolic ejection heart murmur; elevated CPK's ranging from 5,150 to 17,090; EMG picture is consistent with DMD; EKG at age 6 suggested right ventricular enlargement or combined ventricular enlargement; muscle biopsy showed typical changes of DMD; PCR analysis of dystrophin gene shows deletion of exons 45 to 50; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-50
Category分类：Fibroblast
ID编号:NTCC®-GM03429
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:6 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:EX45-50DEL
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY[19]
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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
Tel电话：400-800-2947
Email：Biovector@163.com
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