GM20956Ia 型先天性糖基化障碍 |磷酸甘露聚糖酶2； PMM2 皮肤，未特指的成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20956 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; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 422 in exon 5 of the PMM2 gene [422G>A] resulting in a substitution of histidine for arginine at codon 141 [Arg141His (R141H)] and a second allele has a substitution of threonine for proline at codon 113 [Pro113Thr (P113T)]._x000D_
Category分类：Fibroblast
ID编号:NTCC®-GM20956
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:29 YR
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 PRO113THR
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
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