NTCC® NA00697 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00697

Name：NTCC® NA00697 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00697
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: 17 YR
Gender性别: Male
Description描述: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | ARH GENE; ARH
Remarks: Lebanese; large xanthomas; product of a consanguineous mating; fasting plasma total cholesterol of 440 milligram per microliter; LDLR activity in fibroblasts was 60-70% of normal controls; 3 affected sibs, GM00667, GM00694, GM00696; donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene, resulting in a nonsense mutation in codon 136, a glutamine-to-ter substitution [Gln136TER (Q136X)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ARH
Disease疾病类型:
Mutations突变: GLN136TER
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