NTCC® NA17523 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA17523

Name：NTCC® NA17523 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17523
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: 10 YR
Gender性别: Female
Description描述: LIG4 SYNDROME | LIGASE IV, DNA, ATP-DEPENDENT; LIG4
Remarks: Clinically affected; skin biopsy taken from left forearm; microcephaly, developmental and mental delay, pancytopenia, multiple psoriasiform erythrodermatic skin patches, and atypical bone maturation; ligase IV deficient; donor subject is a compound heterozygote: one allele carries a G-to-A transition at nucleotide 1406 (1406G>A) of the LIG4 gene resulting in a gly469-to-glu substitution [GLY469GLU (G469E); the other allele has a C-to-T transition at nucleotide 2440 (2440C>T), resulting in a nonsense codon at amino acid 814 [ARG814TER (R814X)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: LIG4
Disease疾病类型:
Mutations突变: ARG814TER GLY469GLU
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