GM04567 DYSTROPHIA MYOTONICA 1; DM1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04567 DYSTROPHIA MYOTONICA 1; DM1 B-Lymphocyte Cell Line
肌营养不良1； DM1细胞株
Description描述：Clinically affected; first reported episode of weakness occurred at age 8, which was diagnosed as dermatomyositis; distal weakness; myopathic facies; long, thin face; clinical and electrical myotonia; occasional hand cramping; marked lid lag; distal atrophy of hands and feet; reduced muscle mass; difficulty swallowing; marked myotonic response with percussion of the tongue; absent deep tendon reflexes in ankles and knees and markedly depressed reflexes in biceps and triceps; receding hairline; EMG exam revealed "Evidence of a diffuse myopathic process which actually is maximal distally. There is also ample evidence of myotonic insertional potentials present."; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 700 in the DMPK gene; affected sister is GM05164
Category分类：B-Lymphocyte
ID编号:NTCC®-GM04567
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:36 YR
Gender性别:Female
Cell Type细胞类型: DYSTROPHIA MYOTONICA 1; DM1
Affected State:Yes
Product:LCL
Gene:DMPK
Mutations突变:(CTG)n EXPANSION
Ethnicity:
Family:584
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