GM05258 WILSON DISEASE | ATPASE, CU(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05258 WILSON DISEASE | ATPASE, CU(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B B-Lymphocyte Cell Line
威尔逊病 | ATP酶，CU(2+)-转运，β多肽； ATP7B细胞株
Description描述：Diagnosed at age 24 as asymptomatic with "emotional instability"; low serum ceruloplasmin & high hepatic copper level; maintained on d-penicillamine; father had Wilson's disease; parents are first cousins; see GM05257 Fibroblast; donor subject is a compound heterozygote: one allele has an A>C change at nucleotide 3191 in the ATP7B gene (c.3191A>C) resulting in the substitution of alanine for glutamic acid at codon 1064 [Glu1064Ala (E1064A)] and the second allele has a C>A change at nucleotide 3207 (c.3207C>A) resulting in the substitution of glutamine for histidine at codon 1069 [His1069Gln (H1069Q)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM05258
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:34 YR
Gender性别:Female
Cell Type细胞类型: WILSON DISEASE | ATPASE, CU(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B
Affected State:Yes
Product:LCL
Gene:ATP7B
Mutations突变:GLU1064ALA HIS1069GLN
Ethnicity:
Family:841
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
NTCC典型培养物保藏中心
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