GM21931马凡氏综合症； MFS |纤维蛋白1； FBN1 皮肤，未特指成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21931 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; long extremities; tall stature; marked pectus excavatum; no ocular manifestations; aortic aneurysm and mitral valve prolapse were noted at age 45 years; she underwent replacement of the aortic root and ascending aorta with a composite graft; two affected sons; donor subject has a 17 bp deletion at nucleotide 3464 in exon 28 of the FBN1 gene (3464del17) resulting in a frameshift and a stop codon at 1186
Category分类：Fibroblast
ID编号:NTCC®-GM21931
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:48 YR
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:3464del17
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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
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