GM20328 LEPRECHAUNISM | INSULIN RECEPTOR; INSR Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20328 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; birth weight 1,590 g at 42 weeks gestation (<5th percentile); hirsutism; acanthosis nigricans; peripheral edema; thickened lips; prominent nipples; disproportionately large genitalia; heart murmur; developmental delay; failure to thrive; severe constipation; recurrent upper respiratory tract infections; died at 26 months; autopsy revealed: severe pulmonary hypertension, moderate concentric bilateral hypertrophy of heart, focal areas of proliferation of bile ducts, and hepatocytes contained PAS positive granules; fasting hypoglycemia and postprandial hyperglycemia with elevated levels of circulating insulin (1,200 uU/ml) noted in neonatal period; specific binding of insulin (to fibroblasts) = 0.02 +/- 0.02 (fmol/mg cell protein) with normal range being 1.01 - 2.20; donor subject is a compound heterozygote: one allele has an in-frame deletion of three nucleotides resulting in the deletion of codon 281 in exon 3 of the INSR gene [del c.1159-1161, N281] and a second allele has a G>A transition in the first nucleotide of the splice-donor junction in intron 13 of the INSR gene resulting in an in-frame deletion of amino acids 859-867 [IVS 13+1, G>A].
Category分类：Fibroblast
ID编号:NTCC®-GM20328
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:2 MO
Gender性别:Male
Cell Type细胞类型: LEPRECHAUNISM | INSULIN RECEPTOR; INSR
Affected State:Yes
Product:Fibroblast
Gene:INSR
Mutations突变:3-BP DEL (N281) IVS13+1,G>A
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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