Name：NTCC? NA11468 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11468
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: 3 YR
Gender性別: Female
Description描述: GLYCOGEN STORAGE DISEASE I
Remarks: Type Ia; hepatomegaly; slow growth; absent liver glucose-6-phosphatase activity; occasional episodes of severe hypoglycemia with lactic acidosis; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 326 in exon 2 of the G6PC gene [326C>T] resulting in a substitution of cysteine for arginine at codon 83 [Arg83Cys (R83C)] and a second allele has a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene [1118C>T] resulting in a substitution of a termination signal for glutamine at codon 347 [Gln347Ter (Q347X)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: G6PC
Disease疾病類型:
Mutations突變: ARG83CYS GLN347TER
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