GM20942 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20942 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2 Skin, Unspecified Cell Line
Ia 型先天性糖基化障碍 |磷酸甘露聚糖酶2； PMM2细胞株
Description描述：Clinically affected; abnormal isoelectric focusing of transferrin; phosphomannomutase activity = 0.4 nM/min/mg (normal = 4.2 nM/min/mg); donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 425 in exon 5 of the PMM2 gene [425G>A] resulting in a substitution of histidine for arginine at codon 141 [Arg141His (R141H)] and a second allele has a C>A transversion at nucleotide 357 in exon 5 of the PMM2 gene [357C>A] resulting in a substitution of leucine for phenylalanine at codon 119 [Phe119Leu (F119L)]._x000D_
Category分类：Fibroblast
ID编号:NTCC®-GM20942
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:
Gender性别:Male
Cell Type细胞类型: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2
Affected State:Yes
Product:Fibroblast
Gene:PMM2
Mutations突变:ARG141HIS PHE119LEU
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) 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