NTCC® NA01781 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01781

Name：NTCC® NA01781 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01781
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: 18 YR
Gender性别: Female
Description描述: CYSTATHIONINURIA | CYSTATHIONINE GAMMA-LYASE; CTH
Remarks: B6 responsive; 46,XX; 4% of cells show random chromosome loss; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 [Thr67Ile (T67I)]; and the second allele has a C>G transversion at nucleotide 874 in exon 7 (874C>G) resulting in the substitution of glutamic acid for glutamine at codon 240 [Gln240Glu (Q240E)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CTH
Disease疾病类型:
Mutations突变: GLN240GLU THR67ILE
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