GM11638色素性干皮病，补充组 C； XPC| XPC复合亚基、DNA损伤识别和修复因子； XPC成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM11638 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC Cell Line
色素性干皮病，补充组 C； XPC| XPC复合亚基、DNA损伤识别和修复因子； XPC细胞株
Description描述：XP24BE; freckling; atrophy; numerous skin cancers including 1 malignant melanoma and more than 100 basal cell carcinomas; no neurological abnormalities; see GM11637 Lymphoid; donor subject is a compound heterozygote: the maternal allele has an A>G transition at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>G) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream and the deletion of exon 5.2 with a stop 7 codons downstream; the paternal allele has a C>T transition at nucleotide 568 in exon 4 (568C>T) resulting in nonsense mutation at Arg155 [Arg155Ter (R155X)]
Category分类：Fibroblast
ID编号:NTCC®-GM11638
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:20 YR
Gender性别:Female
Cell Type细胞类型: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
Affected State:Yes
Product:Fibroblast
Gene:XPC
Mutations突变:ARG155TER IVS5.1-2A>G
Ethnicity:HUNGARIAN
Family:1425
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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