GM00372 GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA Skin, Arm Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00372 GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA Skin, Arm Cell Line
I 型戈谢病 |葡萄糖苷酶，酸性β；大湾区细胞株
Description描述：Clinically affected; varying percentages of glucocerebrosidase activity (6%, 11.1%), B-glucosidase activity(4.1%, 16.1%), and glucosylsphingosine activity(9.6%) in this cell line have been reported in several publications - please refer to the publications tab on this sample page for more info; donor subject is a compound heterozygote for mutations in the gene encoding acid-beta glucosidase (GBA): one allele carries a single-base mutation (adenosine to guanosine transition) in exon 9 at position 1226 (1226A>G)of the glucocerebrosidase gene which results in the amino acid substitution of serine for asparagine [Asn370Ser (N370S)]; the second allele carries an insertion of a second guanine at cDNA nucleotide 84 (84GG).
Category分类：Fibroblast
ID编号:NTCC®-GM00372
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:29 YR
Gender性别:Male
Cell Type细胞类型: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA
Affected State:Yes
Product:Fibroblast
Gene:GBA
Mutations突变:1-BP INS, 84G ASN370SER
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net