GM24406 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-2; COL6A2 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24406 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-2; COL6A2 Skin, Skin Cell Line
贝瑟勒姆肌病 | VI 型胶原蛋白，ALPHA-2；科尔6A2细胞株
Description描述：Clinically affected-most likely intermediate Collagen VI CMD phenotype; spine normal, symmetric; serial casting ankle bilaterally, right ankle worsening contracture; constipation; achieved and still maintains all of the following without assistance: held head up at about 1 month, turned in bed at about 2 months, sat at 10 months, stood at 12 months, walked at 18 months, climbed stairs at 2 1/2 years, and ran at 20 months; MRI showed T2 changes and diffuse fatty changes in lower extremities; COL6A2 deletion mutation in the obligatory GT splice donor site at exon 11-intron 11 junction (probable in frame deletion); creatine phosphokinase levels of 204 and 495; Northstar Assessment Score: 19, prior score of 24/34; medications include: deflazacort to improve motor function.
Category分类：Fibroblast
ID编号:NTCC®-GM24406
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:9 YR
Gender性别:Female
Cell Type细胞类型: BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-2; COL6A2
Affected State:Yes
Product:Fibroblast
Gene:COL6A2
Mutations突变:Del GT splice donor site
Ethnicity:WELSH/IRISH
Family:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net