GM27199 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27199 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 B-Lymphocyte Cell Line
贝瑟勒姆肌病 | VI 型胶原蛋白 ALPHA-1；科尔6A1细胞株
Description描述：Clinically affected; age of diagnosis 47 years and age of symptom onset at birth; current motor function includes holding head up when sitting and sitting when placed; maximum motor function included climbing at least 4 stairs without handrail; heterozygous genetic variant found in COL6A1 gene c.841G>A (p.Gly281Arg); BiPAP used most/all nights for less than 12 hours; assistive devices include a wheelchair and service animal; treatments include physical therapy, occupational therapy, and orthopedic surgery; medications include diovan.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM27199
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:49 YR
Gender性别:Female
Cell Type细胞类型: BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Affected State:Yes
Product:LCL
Gene:COL6A1
Mutations突变:c.841G>A
Ethnicity:English, Irish
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