GM09276 CARBOXYPEPTIDASE N DEFICIENCY | CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM09276 CARBOXYPEPTIDASE N DEFICIENCY | CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1 B-Lymphocyte Cell Line
羧肽酶 N 缺乏症 |羧肽酶 N，多肽 1，50-KD； CPN1细胞株
Description描述：Angioedema, about 40 attacks per year; urticaria on a few occasions during childhood; long-standing ragweed hay fever and asthma; proband and a sister have approximately 20% of normal carboxypeptidase N activity in serum; donor subject is a compound heterozygote: one allele has a frameshift mutation due to a single G insertion at nucleotide 385 (codon R58) in exon 1 of the CPN1 gene which predicted an abnormal and prematurely truncated protein of 164 amino acids [385fsInsG] and the second allele has a G>A transition at nucleotide 746 in exon 3 (746G>A) that results in a missense gly178-to-asp substitution [Gly178Asp (G178D)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM09276
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:73 YR
Gender性别:Male
Cell Type细胞类型: CARBOXYPEPTIDASE N DEFICIENCY | CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
Affected State:Yes
Product:LCL
Gene:CPN1
Mutations突变:1-BP INS, 385G GLY178ASP
Ethnicity:
Family:
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
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