GM20327 LEPRECHAUNISM | INSULIN RECEPTOR; INSR Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20327 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; born at 36 weeks gestation; severe intrauterine growth restriction; dysmorphic features; poor weight gain after birth; hyperglycemia (glucose 307 mg/dl) diagnosed at 2 months of age; elevated insulin levels on multiple occasions; died at 4 months of age; specific binding of insulin (to fibroblasts) = 0.01 +/- 0.01 (fmol/mg cell protein) with normal range being 1.01 - 2.20; levels of insulin receptor mRNA in fibroblasts is reduced to 15% or less of those measured in controls; donor subject is homozygous for a G>T transversion at nucleotide 451 in exon 2 of the INSR gene [451G>T] resulting in a substitution of a stop codon for glutamic acid at codon 124 [Glu124Ter (E124X)].
Category分类：Fibroblast
ID编号:NTCC®-GM20327
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:
Age年龄:2 MO
Gender性别:Female
Cell Type细胞类型: LEPRECHAUNISM | INSULIN RECEPTOR; INSR
Affected State:Yes
Product:Fibroblast
Gene:INSR
Mutations突变:GLU124TER
Ethnicity:
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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