GM21940 MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21940 MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1 Skin, Unspecified Cell Line
马凡氏综合症； MFS |纤维蛋白1； FBN1细胞株
Description描述：Clinically affected; as a neonate she had striking arachnodactyly and pectus excavatum; mild contractures of elbows and knees; long face with deep-set eyes; bilateral iridodonesis; high-grade myopia; bilateral lens dislocation at age three years; severe progressive thoracolumbar scoliosis (>80 degrees) requiring spinal fusion; episodes of supraventricular tachycardia and cardiac arrhythmia; aortic root 4.5cm in diameter at age six years; mitral regurgitaion and mitral and tricuspid valve prolapse; hypermobile joints; valve-repacement surgery and pectus excavatum repair; underdeveloped musculature and lack of subcutaneous fat; donor subject has a genomic deletion of exons 44, 45 and 46 of the FBN1 gene
Category分类：Fibroblast
ID编号:NTCC®-GM21940
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:
Age年龄:
Gender性别:Female
Cell Type细胞类型: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Affected State:Yes
Product:Fibroblast
Gene:FBN1
Mutations突变:DEL EX44-46
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) 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