GM20032 LEPRECHAUNISM | INSULIN RECEPTOR; INSR Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20032 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; hirsutism; cardiomyopathy; died at age 3 months; increased circulating insulin levels (above 6000 pmol/liter); reduced insulin binding; donor subject is a compound heterozygote: one allele has a T>A transversion of the INSR gene resulting in a substitution of glutamine for leucine at codon 93 [Leu93Gln(L93Q)] and a second allele has a C>A transversion of the INSR gene resulting in a substitution of a stop codon for a tyrosine at codon 1122 [Tyr1122Stop(Y1122X)].
Category分类：Fibroblast
ID编号:NTCC®-GM20032
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:Female
Cell Type细胞类型: LEPRECHAUNISM | INSULIN RECEPTOR; INSR
Affected State:Yes
Product:Fibroblast
Gene:INSR
Mutations突变:LEU93GLN TYR1122TER
Ethnicity:DUTCH
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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