GM24343 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-3; COL6A3 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24343 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-3; COL6A3 B-Lymphocyte Cell Line
贝瑟勒姆肌病 | VI 型胶原蛋白，ALPHA-3；科尔6A3细胞株
Description描述：Clinically affected; symptom onset at age range 6-10 years; current maximal motor function: walk without assistance greater than 10 steps; can hold head up, turn in bed, sit, stand, walk indoors, and climb stairs with a handrail, all without assistance; motor functions achieved but not currently maintained: walking outdoors without assistance and running; breathing support required at night only; donor subject is heterozygous for an A>G transition at nucleotide 1688 in exon 5 of the COL6A3 gene resulting in the substitution of glycine for aspartic acid at codon 563 [Asp563Gly (D563G)]; positive family history: mother, daughter (GM23324), sister and two nieces are also affected.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24343
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:58 YR
Gender性别:Male
Cell Type细胞类型: BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-3; COL6A3
Affected State:Yes
Product:LCL
Gene:COL6A3
Mutations突变:ASP563GLY
Ethnicity:GERMAN/SLOVAK
Family:3014
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