NTCC® NA02796 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02796

Name：NTCC® NA02796 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02796
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: 15 YR
Gender性别: Male
Description描述: GALACTOSEMIA | GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Remarks: See GM00052 and GM01908 (Fibroblast); no detectable transferase activity in RBCs and fibroblasts; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 404 in exon 5 of the GALT gene (c.404C>T) resulting in the substitution of leucine for serine at codon 135 [Ser135Leu(S135L)]; the second allele has a T>C transition at nucleotide 512 in exon 6 (c.512T>C) resulting in the substitution of serine for phenylalanine at codon 171 [Phe171Ser(F171S)]; donor subject also has two silent polymorphisms: c.876G>A [Thr292Thr(T292T)] and c.945T>C [His315His(H315H)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GALT
Disease疾病类型:
Mutations突变: HIS315HIS PHE171SER SER135LEU THR292THR
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