Name：NTCC? NA08106 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA08106
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 51 YR
Gender性別: Male
Description描述: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 | HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
Remarks: Clinically affected with MODY; diagnosed at age 21; fasting hyperglycemia; 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)]; brother of proband GM01237; son of GM10036; father of GM08107, GM11452, GM11493, and GM11494; spouse of GM11453; extended pedigree available in PMID:102555.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: HNF4A
Disease疾病類型:
Mutations突變: GLN268TER
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net