GM01607 GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM01607 GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA Cell Line
I 型戈谢病 |葡萄糖苷酶，酸性β；大湾区细胞株
Description描述：Hepatosplenomegaly since age 17; typical Gaucher's cells observed in bone marrow aspirant; 18% of control fibro glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] and a second allele has a G>T transversion at nucleotide 1297 in exon 9 of the GBA gene [1297G>T] resulting in a substitution of leucine for valine at codon 394 [Val394Leu (V394L)];negative family history._x000D_
Category分类：Fibroblast
ID编号:NTCC®-GM01607
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:30 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:ASN370SER VAL394LEU, 1297G>T
Ethnicity:Eastern European Jewish
Family:
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:

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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