Name：NTCC? NA00877 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00877
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: 1 YR
Gender性別: Male
Description描述: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Remarks: expired at age 1; hepatosplenomegaly; strabismus; trismus; 4% of cont fibroblast glucocerebrosidase activity; donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444, Pro for Leu [Leu444Pro (L444P)]; 1 allele has 2 additional base substitutions: 1483G>C and 1497G>C [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG]
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GBA
Disease疾病類型:
Mutations突變: LEU444PRO; ALA456PRO; VAL460VAL LEU483PRO (LEU444PRO), 1448T>C
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