GM08771 REFSUM DISEASE, INFANTILE FORM | PEROXISOME BIOGENESIS FACTOR 26; PEX26 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM08771 REFSUM DISEASE, INFANTILE FORM | PEROXISOME BIOGENESIS FACTOR 26; PEX26 Cell Line
婴儿型 REFSUM 疾病 |过氧化物酶体生物生成因子 26； PEX26细胞株
Description描述：Complementation group 8; severe developmental delay; facial dysmorphism; sensorineural hearing loss; severe visual impairment with retinitis pigmentosa; elevated serum phytanic and pipecolic acid; deficient fibroblast phytanic acid oxidase activity; increased ratio of C26/C22 very long chain fatty acids; donor subject is a compound heterozygote: allele one has a T>C transition at nucleotide 2 of the PEX26 gene (2T>C), resulting in a Met1-to-Thr substitution in the initiator Met residue [Met1Thr (M1T)]; the second allele has a T>C transition at nucleotide 134 (134T>C), resulting in a Leu45-to-Pro substitution [Leu45Pro (L45P)]
Category分类：Fibroblast
ID编号:NTCC®-GM08771
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:4 YR
Gender性别:Female
Cell Type细胞类型: REFSUM DISEASE, INFANTILE FORM | PEROXISOME BIOGENESIS FACTOR 26; PEX26
Affected State:Yes
Product:Fibroblast
Gene:PEX26
Mutations突变:LEU45PRO MET1THR
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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