Name細胞名稱：NTCC? GM20956 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2 Skin, Unspecified Cell Line
Ia 型先天性糖基化障礙 |磷酸甘露聚糖酶2； PMM2細胞株
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分類：Fibroblast
ID編號:NTCC?-GM20956
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race:
Age年齡:29 YR
Gender性別:Male
Cell Type細胞類型: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2
Affected State:Yes
Product:Fibroblast
Gene:PMM2
Mutations突變:ARG141HIS PRO113THR
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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