GM23415 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23415 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B B-Lymphocyte Cell Line
肌营养不良，肢带，2B 型； LGMD2B细胞株
Description描述：Clinically affected; symptom onset at 27 years of age; diagnosis at 28 years of age; mildly obese (BMI 36); hypertension;_x000D_ significant proximal weakness; primarily lower extremity weakness; ambulatory with history of frequent falls; needs to hang on to something while standing; knee, join, ankle, and hip pain while standing; cannot fully walk on heels; cannot walk on 锟絫iptoes锟? slightly exaggerated lumbar lordosis when walking; gait extremely tenuous; foot drop while walking; weakness in hands that affects grip, R>L; activities that require wrist flexion are difficult; difficulty with daily activities such as doing laundry and cooking;_x000D_ myopathic motor unit potentials more in lower extremities than upper extremities with complex repetitive discharges; dysferlin absent on western blot and calpain reduced; elevated CK level (5,080); donor subject has 2 mutations in the DYSF gene ([c.1398-1G>A]+[c.2071C>T (pQ691X)]); _x000D_ subject takes celebrex for joint pain; assistive devices include cane and wheelchair which is only used outside of the home for longer distances._x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23415
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:40 YR
Gender性别:Female
Cell Type细胞类型: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
Affected State:Yes
Product:LCL
Gene:DYSF
Mutations突变:c.1398-1G>A c.2071C>T (pQ691X)
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
http://www.biovector.net