GM04569 MUSCULAR DYSTROPHY, BECKER TYPE; BMD Skin, Arm Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04569 MUSCULAR DYSTROPHY, BECKER TYPE; BMD Skin, Arm 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 muscular dystrophy; presented at age 22 with muscle weakness; initially carried diagnosis of Limb-Girdle muscular dystrophy; calf hypertrophy since childhood; tightness around legs noted as young child; difficulty walking up stairs noted at age 13-14; muscle weakness and atrophy of the biceps noted at age 22; by age 33 there was lordosis, grade III weakness of shoulder girdle, absent bicep jerks and modified Gower's maneuver; by age 37 there were absent bicep and tricep reflexes, normal brachioradialis, decreased patellar and ankle jerk on left but normal on the right, grade II weakness of the biceps and triceps, normal grip and forearm strength, grade II to III weakness of hamstrings with associated weakness of the adductors of the quadriceps, normal strength in the calves, ankles and feet, broadbased and labored gait due to weakness; twin brother (possibly identical) also affected; CPK of 1,718 at age 33; transaminase of 73 at age 33; muscle biopsy showed alteration of a long standing chronic myopathy and could be consistent with Limb-Girdle muscular dystrophy or Beckers muscular dystrophy; electromyogram showed primary myopathic changes; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations.
Category分类：Fibroblast
ID编号:NTCC®-GM04569
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:38 YR
Gender性别:Male
Cell Type细胞类型: MUSCULAR DYSTROPHY, BECKER TYPE; BMD
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:
Family:591
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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