NTCC® NA20328 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20328

Name：NTCC® NA20328 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20328
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 2 MO
Gender性别: Male
Description描述: LEPRECHAUNISM | INSULIN RECEPTOR; INSR
Remarks: 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].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: INSR
Disease疾病类型:
Mutations突变: 3-BP DEL (N281) IVS13+1,G>A
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net