GM02406 PHENYLKETONURIA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02406 PHENYLKETONURIA Cell Line
苯丙酮尿症细胞株
Description描述：Clinically affected; pyloric stenosis; normal level of dihydropteridine reductase in skin fibroblasts; donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 896 in exon 8 of the PAH gene [896T>G] resulting in a substitution of cysteine for phenylalanine at codon 299 [Phe299Cys (F299C)] and a second allele has a C>T transition at nucleotide 1222 in exon 11 of the PAH gene [1222C>T] resulting in a substitution of tryptophan for arginine at codon 408 [Arg408Trp (R408W)]. Same subject as GM27578 (stem cell).
Category分类：Fibroblast
ID编号:NTCC®-GM02406
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:2 MO
Gender性别:Male
Cell Type细胞类型: PHENYLKETONURIA
Affected State:Yes
Product:Fibroblast
Gene:PAH
Mutations突变:ARG408TRP PHE299CYS
Ethnicity:
Family:3487
Relationship:proband
Karyotype:
Tissue Type组织来源:
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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