GM02250色素性干皮病，补充组 A； XPA | XPA，DNA损伤识别和修复因子； XPA B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02250 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA B-Lymphocyte 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：XP12BE; multiple skin cancers; acute sun sensitivity; progressive neurological degeneration; <2% of normal UV induced unscheduled DNA synthesis in fibroblasts; same patient as ATCC CRL 1223; see GM04429 (SV40 transformed fibroblast) and GM05509 (fibroblast); the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice; the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM02250
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:17 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:LCL
Gene:XPA
Mutations突变:555G>C G>T transversion in intron 3
Ethnicity:
Family:484
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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