GM20033 LEPRECHAUNISM | INSULIN RECEPTOR; INSR Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20033 LEPRECHAUNISM | INSULIN RECEPTOR; INSR Skin, Unspecified Cell Line
妖精主义 |胰岛素受体；国家科学研究院细胞株
Description描述：Clinically affected; typical dysmorphic features of leprechaunism; acanthosis nigricans; died at age 9 months; insulin level of 1800 pmol/liter; high-affinity insulin-binding sites markedly reduced (by ~70%); donor subject is homozygous for a C>T transition of the INSR gene resulting in a substitution of leucine for serine at codon 323 [Ser323Leu(S323L)]; exon counting and quantitative PCR have not been done to confirm homozygosity, but mutation was found in both parents
Category分类：Fibroblast
ID编号:NTCC®-GM20033
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:
Gender性别:Male
Cell Type细胞类型: LEPRECHAUNISM | INSULIN RECEPTOR; INSR
Affected State:Yes
Product:Fibroblast
Gene:INSR
Mutations突变:SER323LEU
Ethnicity:TURKISH
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
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