GM21938 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® GM21938 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; mildly dilated aortic root with diameters of 22mm at the annulus, 40mm at 1cm above the annulus, and 41mm maximum dilation; mitral valve prolapse; height 184cm; arm span of 186.7cm; thumb and wrist signs were negative; long narrow face; slightly high palate; minor asymmetry of the anterior chest wall; no scoliosis, joint hyperextensibility, sternal deformity, or contractures; no lens dislocation; shoe size 12 1/2; donor subject has a G>A change at nucleotide 3379 in exon 27 of the FBN1 gene (3379G>A) resulting in the substitution of serine for glycine at codon 1127 [Gly1127Ser (G1127S)]
Category分类：Fibroblast
ID编号:NTCC®-GM21938
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:36 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:GLY1127SER
Ethnicity:DUTCH
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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