GM16513 ZELLWEGER SYNDROME; ZS | PEROXISOME BIOGENESIS FACTOR 1; PEX1 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16513 ZELLWEGER SYNDROME; ZS | PEROXISOME BIOGENESIS FACTOR 1; PEX1 Skin, Unspecified Cell Line
齐薇格综合症； ZS |过氧化物酶体生物生成因子 1； PEX1细胞株
Description描述：Clinically affected; dolichocephaly; prominent high forehead; epicanthal folds; broad nasal bridge; anteverted nostrils; leukodystrophy; adrenal insufficiency; mildly deficient peroxisomal plasmalogen synthesis enzymes; catalase is mainly in the cytosol; deficient phytanic acid oxidation; significantly increased pipecolic acid in plasma; C26:0 and C26:1 are higher than normal; higher than normal ratio of C26/22; donor subject has one allele with a 1 bp insertion in exon 13 of the PEX1 gene (2097insT) between codons F699 and I700 that results in a frameshift and a premature termination codon 41 amino acids downstream of the insertion; the mutation on the second allele is as yet unknown
Category分类：Fibroblast
ID编号:NTCC®-GM16513
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:5 MO
Gender性别:Male
Cell Type细胞类型: ZELLWEGER SYNDROME; ZS | PEROXISOME BIOGENESIS FACTOR 1; PEX1
Affected State:Yes
Product:Fibroblast
Gene:PEX1
Mutations突变:1-BP INS, 2097T
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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