NTCC® NA00483 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00483

Name：NTCC® NA00483 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00483
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: 37 YR
Gender性别: Female
Description描述: HYPERCHOLESTEROLEMIA, FAMILIAL; FHC | LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Remarks: Affected mother of a clinically diagnosed receptor negative child (GM00488); elevated plasma cholesterol; donor subject has one allele which has a G>A (TGT>TAT) transition at nucleotide 2000 in exon 14 of the LDLR gene (2000G>A) resulting in the substitution of tyrosine for cysteine at codon 646 [Cys646Tyr (C646Y)]- for methods, please refer to publication by Bodamer et al. (PMID 12406975); see same subject B-lymphocyte (GM01460).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: LDLR
Disease疾病类型:
Mutations突变: CYS646TYR
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