GM21950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® GM21950 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; severe pectus excavatum; severe scoliosis requiring surgery; high narrow palate; dental crowding; contractures; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; myopia (>4 diopters); bilateral ectopia lentis; ascending aortic aneurysm; aortic root replacement at age 22 years; mitral valve prolapse; unilateral hernia; striae; donor subject has a T>C change at nucleotide 3511 in exon 28 of the FBN1 gene (3511T>C) resulting in the substitution of arginine for cysteine at codon 1171 [Cys1171Arg (C1171R)]
Category分类：Fibroblast
ID编号:NTCC®-GM21950
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:22 YR
Gender性别:Male
Cell Type细胞类型: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Affected State:Yes
Product:Fibroblast
Gene:FBN1
Mutations突变:CYS1171ARG
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
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