Name細胞名稱：NTCC? GM21940 MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1 Skin, Unspecified Cell Line
馬凡氏綜合癥； MFS |纖維蛋白1； FBN1細胞株
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分類：Fibroblast
ID編號:NTCC?-GM21940
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race:
Age年齡:
Gender性別:Female
Cell Type細胞類型: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Affected State:Yes
Product:Fibroblast
Gene:FBN1
Mutations突變:DEL EX44-46
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net