NTCC® NA08072 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA08072

Name：NTCC® NA08072 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA08072
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: 27 YR
Gender性别: Female
Description描述: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 | HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
Remarks: Clinically affected with MODY; one impaired and one diabetic glucose tolerance test at age 17, normal tests since then; daughter of GM01246 & GM07973; spouse of GM10406; mother of GM08073, GM11090, & GM11600; donor subject has a C>T substitution at codon 268 in exon 7 of the HNF4A (TCF14) gene that results in a CAG>TAG nonsense mutation [Gln268Ter (Q268X)]; donor subject also has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 [Thr130Ile (T130I)]; extended pedigree available in PMID:102555.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: HNF4A
Disease疾病类型:
Mutations突变: GLN268TER
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