GM02774 FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02774 FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA Cell Line
法布里病 |半乳糖苷酶，α； GLA细胞株
Description描述：50% of normal Alpha gal A, normal Alpha gal B, Xg(a) antigen +/-; two affected sons; two populations of cells, one with normal alpha-galactosidase-A activity and a second with deficient enzyme activity observed using cell sorting; donor subject is heterozygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon [Arg220Ter (R220X)]; donor is also heterozygous for three SNPs: IVS4-16A>G (rs2071397), IVS6-22C>T (rs2071228) and c.1-10C>T (rs2071225)
Category分类：Fibroblast
ID编号:NTCC®-GM02774
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:47 YR
Gender性别:Female
Cell Type细胞类型: FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA
Affected State:
Product:Fibroblast
Gene:GLA
Mutations突变:ARG220TER
Ethnicity:
Family:246
Relationship:maternal aunt
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
NTCC典型培养物保藏中心
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