GM11468 GLYCOGEN STORAGE DISEASE I | GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM11468 GLYCOGEN STORAGE DISEASE I | GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC B-Lymphocyte Cell Line
糖原贮积病 I |葡萄糖-6-磷酸酶，催化； G6PC细胞株
Description描述：Type Ia; hepatomegaly; slow growth; absent liver glucose-6-phosphatase activity; occasional episodes of severe hypoglycemia with lactic acidosis; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 326 in exon 2 of the G6PC gene [326C>T] resulting in a substitution of cysteine for arginine at codon 83 [Arg83Cys (R83C)] and a second allele has a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene [1118C>T] resulting in a substitution of a termination signal for glutamine at codon 347 [Gln347Ter (Q347X)]._x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM11468
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:3 YR
Gender性别:Female
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE I | GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
Affected State:Yes
Product:LCL
Gene:G6PC
Mutations突变:ARG83CYS GLN347TER
Ethnicity:
Family:1399
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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