GM03040 HYPERCHOLESTEROLEMIA, FAMILIAL; FHC | LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03040 HYPERCHOLESTEROLEMIA, FAMILIAL; FHC | LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR Cell Line
家族性高胆固醇血症； FHC |低密度脂蛋白受体；低密度脂蛋白受体细胞株
Description描述：Clinically affected; very high serum LDL (820 mg/L), triglycerides: 85; normal triglycerides; cutaneous and tendinous xanthomas; corneal arcus; no response to diet and bile chelating resins; fibroblast assays show minimal binding, internalization and degradation and oleate incorporation into cholesterol ester; 120I-LDL binding assay showed this line to have <5% normal activity (LDL receptor negative); Family history: mother锟絪 side of the family reported to be strongly positive for early onset atherosclerosis and hypercholesterolemia; affected mother(GM03065)-serum cholesterol level 870 mg/L, triglycerides: 51, no xanthomas, no clinical evidence of atherosceloris; affected father(GM03064)-serum cholesterol level 299 mg/L, triglycerides: 150, no xanthomas, no clinical evidence of atherosclerosis.
Category分类：Fibroblast
ID编号:NTCC®-GM03040
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:9 YR
Gender性别:Male
Cell Type细胞类型: HYPERCHOLESTEROLEMIA, FAMILIAL; FHC | LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Affected State:Yes
Product:Fibroblast
Gene:LDLR
Mutations突变:GLY197DEL
Ethnicity:
Family:440
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
http://www.biovector.net