Name：NTCC? NA07974 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA07974
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 31 YR
Gender性別: Female
Description描述: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 | HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
Remarks: Clnically affected with MODY; impaired glucose tolerance test at age 15; diabetic glucose tolerance test at age 17; treated with diet alone; 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)]; mother of GM07975; daughter of GM07973 & GM01246; extended pedigree available in PMID:102555.
Alternate IDs其他編號(hào):
Cell Type細(xì)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(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
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