GM05082贝克尔型肌营养不良症； BMD B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05082 MUSCULAR DYSTROPHY, BECKER TYPE; BMD B-Lymphocyte Cell Line
贝克尔型肌营养不良症；骨密度细胞株
Description描述：Clinically affected with Becker's muscular dystrophy; diagnosed at age 9; progressive weakness; calf hypertrophy; began walking at 13 months but did not start crawling until after walking began; calf and thigh cramping when running at age 7; difficulty climbing stairs and frequent falls at age 8; by age 9 there was a positive Gower's maneuver, gluteal gait, hypotonia of the four extremities, depressed deep tendon reflexes, marked weakness in hip flexors, weakness to ankle dorsiflexion, hip adduction, hip abduction and flexion, weakness to neck flexion, shoulder adduction and abduction, atrophy of anterior hip groups, moderate lumbar lordosis, mild contractures of the ankles, upper nystagmus; muscle testing at age 9: neck flexors 4/5, neck extensors 5/5, deltoids 4/5, pectorals 4/5, biceps 5-/5, triceps 5/5, wrist extensors 5/5, psoas 4+/5, quadriceps 5-/5, hamstrings 5/5, tibialis anterior 5-/5, gastrocnemius 5/5; by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles; son of GM05087/88; elevated CPK; muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant; same donor as GM05081 Fibroblast; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations
Category分类：B-Lymphocyte
ID编号:NTCC®-GM05082
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:10 YR
Gender性别:Male
Cell Type细胞类型: MUSCULAR DYSTROPHY, BECKER TYPE; BMD
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:2396
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
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