GM17523LIG4 综合征 |连接酶 IV，DNA，ATP 依赖性； LIG4 皮肤、手臂成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17523 LIG4 SYNDROME | LIGASE IV, DNA, ATP-DEPENDENT; LIG4 Skin, Arm Cell Line
LIG4 综合征 |连接酶 IV，DNA，ATP 依赖性； LIG4细胞株
Description描述：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)].
Category分类：Fibroblast
ID编号:NTCC®-GM17523
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:10 YR
Gender性别:Female
Cell Type细胞类型: LIG4 SYNDROME | LIGASE IV, DNA, ATP-DEPENDENT; LIG4
Affected State:Yes
Product:Fibroblast
Gene:LIG4
Mutations突变:ARG814TER GLY469GLU
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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