GM16097 IMMUNODEFICIENCY 96; IMD96 | LIGASE I, DNA, ATP-DEPENDENT; LIG1 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16097 IMMUNODEFICIENCY 96; IMD96 | LIGASE I, DNA, ATP-DEPENDENT; LIG1 Skin, Unspecified Cell Line
免疫缺陷96； IMD96 | IMD96连接酶 I，DNA，ATP 依赖性；利格1细胞株
Description描述：SV40 (pSVneo) transformed GM16096; hypogammaglobulinemia; syndrome of immunodeficiency, increased sensitivity to DNA-damaging agents, and delayed development attributed to loss of DNA ligase I function; died at the age of 19 years with lymphoma; donor subject was a compound heterozygote, carrying two different missense mutations in the LIG1 gene: the paternal allele showed a substitution of lysine for glutamic acid-566 [GLU566LYS (E566K)] resulting from G-to-A transition and the maternal allele carried an arg771-to-trp mutation [ARG771TRP (R771W)], the result of a C-to-T transition.
Category分类：Fibroblast
ID编号:NTCC®-GM16097
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:18 YR
Gender性别:Female
Cell Type细胞类型: IMMUNODEFICIENCY 96; IMD96 | LIGASE I, DNA, ATP-DEPENDENT; LIG1
Affected State:Yes
Product:Fibroblast
Gene:LIG1
Mutations突变:ARG771TRP GLU566LYS
Ethnicity:
Family:1876
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
NTCC典型培养物保藏中心
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