GM01389色素性干皮病，补充组 E | DNA 损伤结合蛋白 2； DDB2成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM01389 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | DNA DAMAGE-BINDING PROTEIN 2; DDB2 Cell Line
色素性干皮病，补充组 E | DNA 损伤结合蛋白 2； DDDB2细胞株
Description描述：Diagnosed at age 16 years; complementation analysis in heterodikaryons negative when crossed with XPE (XP23PV); unscheduled DNA synthesis 60% of normal level; GM01646 is a lymphoblastoid cell line from the same individual; at the age of 53 has now reported more than 600 BCCs, SCCs and 12 melanomas by the age of 50; donor subject is a compound heterozygote: one allele carries a T>C transition at nucleotide 1224 (1224T>C) of the DDB2 gene, resulting in a missense mutation at codon 350 [Leu350Pro (L350P)]; the second allele carries a 3 bp deletion (del 1220-1222) resulting in the deletion of ASN349 (N349del).
Category分类：Fibroblast
ID编号:NTCC®-GM01389
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:21 YR
Gender性别:Female
Cell Type细胞类型: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | DNA DAMAGE-BINDING PROTEIN 2; DDB2
Affected State:Yes
Product:Fibroblast
Gene:DDB2
Mutations突变:ASN349del LEU350PRO
Ethnicity:
Family:377
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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