GM00667高胆固醇血症，常染色体隐性遗传； ARH | ARH基因； ARH成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00667 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | ARH GENE; ARH Cell Line
高胆固醇血症，常染色体隐性遗传； ARH | ARH基因；急性肝炎细胞株
Description描述：Lebanese; large xanthomas; product of consanguineous mating; fasting plasma total cholesterol of 580 milligram per microliter; LDLR activity in fibroblasts was 60-70% of normal controls; three affected sibs: GM00694, GM00696, GM00697; donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene, resulting in a nonsense mutation in codon 136, a glutamine-to-ter substitution [Gln136TER (Q136X)].
Category分类：Fibroblast
ID编号:NTCC®-GM00667
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:12 YR
Gender性别:Male
Cell Type细胞类型: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | ARH GENE; ARH
Affected State:Yes
Product:Fibroblast
Gene:ARH
Mutations突变:GLN136TER
Ethnicity:LEBANESE
Family:263
Relationship:proband
Karyotype:
Tissue Type组织来源:
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
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