GM01981门克斯综合症| ATP酶，CU(2+)-转运，α多肽； ATP7A 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM01981 MENKES SYNDROME | ATPASE, CU(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A Cell Line
门克斯综合症| ATP酶，CU(2+)-转运，α多肽； ATP7A细胞株
Description描述：See GM01982 Lymph; fibroblasts exhibit elevated copper concentrations; abnormal metallothionein gene regulation in response to copper; SV40 transformed culture shows qualitative and quantitative changes in Mc1 mRNA; donor subject has a 5 bp deletion at nucleotide 803 in exon 4 of the ATP7A gene (803_807delATCTC) causing a frameshift after Leu219
Category分类：Fibroblast
ID编号:NTCC®-GM01981
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:2 YR
Gender性别:Male
Cell Type细胞类型: MENKES SYNDROME | ATPASE, CU(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
Affected State:Yes
Product:Fibroblast
Gene:ATP7A
Mutations突变:803_807delATCTC
Ethnicity:
Family:80
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:

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