GM17425成骨不全，IV 型； OI4 |胶原蛋白，I 型，ALPHA-2； COL1A2 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17425 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | COLLAGEN, TYPE I, ALPHA-2; COL1A2 B-Lymphocyte Cell Line
成骨不全，IV 型； OI4 |胶原蛋白，I 型，ALPHA-2；列1A2细胞株
Description描述：Clinically affected; white sclerae; fair dentition; bone density score for spine indicates osteoporosis; history of five bone fractures; affected brothers are GM17410 Fibroblast and GM17427; see GM17426 Fibroblast; donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene [Gly610Cys (G610C)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM17425
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:40 YR
Gender性别:Female
Cell Type细胞类型: OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | COLLAGEN, TYPE I, ALPHA-2; COL1A2
Affected State:Yes
Product:LCL
Gene:COL1A2
Mutations突变:GLY610CYS
Ethnicity:AMISH
Family:2187
Relationship:sister
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