GM02009色素性干皮病，补充组 A； XPA | XPA，DNA损伤识别和修复因子； XPA成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02009 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA Cell Line
色素性干皮病，补充组 A； XPA | XPA，DNA损伤识别和修复因子； XPA细胞株
Description描述：XP1PD; mental and growth retardation; photosensitivity; similarly affected sib; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 of exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; the second allele carries a G-to-T transversion at nucleotide 323 of exon 3 altering the Cys-108 codon (TGT) to a phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein [Cys108Phe (C108F)].
Category分类：Fibroblast
ID编号:NTCC®-GM02009
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: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
Affected State:Yes
Product:Fibroblast
Gene:XPA
Mutations突变:5BP DEL CYS108PHE
Ethnicity:NORTHERN EUROPEAN
Family:200
Relationship:proband
Karyotype:
Tissue Type组织来源:
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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