Name細胞名稱：NTCC? GM21976 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; sternum has part excavatum deformity and part has carinatum deformity; scoliosis; high narrow palate; contractures, including hammertoes; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; unilateral ectopia lentis; retinal detachment; mitral valve prolapse; mitral regurgitation; pneumothorax; hiatal hernia; striae; donor subject has a 1 bp insertion at nucleotide 3445 in exon 27 of the FBN1 gene (3445insC) resulting in a premature stop at codon 1158 [Glu1158Ter (E1158X)]
Category分類：Fibroblast
ID編號:NTCC?-GM21976
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:34 YR
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:3445insC
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