GM21498马凡氏综合症； MFS |纤维蛋白1； FBN1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21498 MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1 B-Lymphocyte Cell Line
马凡氏综合症； MFS |纤维蛋白1； FBN1细胞株
Description描述：Clinically affected; aortic dissection; joint and neck pain; simple abnormal auricles; beaked nose; micrognathia; high palate; broad uvula; cataracts; downsloping ribs; pectus carinatum; wheezing; decreased breath sounds; blood pressure = 127/71; hyperextensibilty; cigarette paper scarring; striae; upper thoracic scoliosis; hyperextension of right shoulder, CMC joints, and DIP joints; limitation on left shoulder (flexion/extension) and neck mobility (left and right); pes planus; genu valga; arachnodactyly; poor sleep; asthma; fatigue; spine at C4-C5 has disc disease causing mild to moderate stenosis; disc desiccation at C5-C6; small hemangioma at the C6 vertebral body; donor has one allele with an A>G transition at nucleotide 83 of the FBN1 gene (c.83A>G) resulting in a substitution of a serine for an asparagine at codon 28 [Asn28Ser (N28S)]; see GM21499 Fibroblast
Category分类：B-Lymphocyte
ID编号:NTCC®-GM21498
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:47 YR
Gender性别:Male
Cell Type细胞类型: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Affected State:Yes
Product:LCL
Gene:FBN1
Mutations突变:ASN28SER
Ethnicity:
Family:2624
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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