GM28304 BLAU SYNDROME; BLAUS | NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM28304 BLAU SYNDROME; BLAUS | NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2 Skin, Skin Cell Line
布劳综合症；布拉斯 |核苷酸结合寡聚化结构域蛋白 2；诺德2细胞株
Description描述：Clinically affected. Skin abnormalities as the single manifestation. No ling involvement nor uveitis. De novo mutation in the NOD2 gene c.1148A>G (p.Glu383Gly). See "Phenotypic Data" tab. Unaffected parents: mother is GM28305 (LCL) and GM28306 (fibro); father is GM28307 (LCL) and GM28308 (fibro); LCL is GM28303.
Category分类：Fibroblast
ID编号:NTCC®-GM28304
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: BLAU SYNDROME; BLAUS | NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2
Affected State:Yes
Product:Fibroblast
Gene:NOD2
Mutations突变:c.1148A>G (p.Giu383Giy)
Ethnicity:Netherlands
Family:3544
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
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