NTCC® NA20033 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20033

Name：NTCC® NA20033 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20033
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:
Gender性别: Male
Description描述: LEPRECHAUNISM | INSULIN RECEPTOR; INSR
Remarks: 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
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: SER323LEU
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