NTCC® NA00422 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00422

Name：NTCC® NA00422 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00422
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: 9 YR
Gender性别: Female
Description描述: GALACTOSEMIA | GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Remarks: Passage 3 at CCR; clinically affected; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 563 in exon 6 of the GALT gene (c.563A>G) resulting in the substitution of arginine for glutamine at codon 188 [Gln188Arg (Q188R)]; and the second allele has a C>A transition at nucleotide 1030 in exon 10 (c.1030C>A) resulting in the substitution of lysine for glutamine at codon 344 [Gln344Lys (Q344K)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GALT
Disease疾病类型:
Mutations突变: GLN188ARG GLN344LYS
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