GM00107 FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA Skin, Arm Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00107 FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA Skin, Arm Cell Line
法布里病 |半乳糖苷酶，α； GLA细胞株
Description描述：Two investigators independently analyzing levels of alpha-galactosidase via assays run with 4-methylumbelliferone derivatives of alpha-galactose have determined deficiency of the enzyme (1973: 27% of normal, 1981: 10-15% of normal); normal activities of beta-glucuronidase, acid beta-galactosidase, and alpha-mannosidase; classic phenotype; donor subject is hemizygous for a G>A change at nucleotide 485 in exon 3 of the GLA gene (c.485G>A), resulting in a stop codon [Trp162Ter (W162X)]; donor is also hemizygous for two SNPs: IVS4-16A>G (rs2071397) and IVS6-22C>T (rs2071228).
Category分类：Fibroblast
ID编号:NTCC®-GM00107
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:
Age年龄:10 YR
Gender性别:Male
Cell Type细胞类型: FABRY DISEASE | GALACTOSIDASE, ALPHA; GLA
Affected State:Yes
Product:Fibroblast
Gene:GLA
Mutations突变:TRP162TER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
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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