GM01565 PHENYLKETONURIA | CYSTATHIONINE GAMMA-LYASE; CTH | CYSTATHIONINURIA B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM01565 PHENYLKETONURIA | CYSTATHIONINE GAMMA-LYASE; CTH | CYSTATHIONINURIA B-Lymphocyte Cell Line
苯丙酮尿症 |胱硫醚γ裂解酶； CTH |胱硫醚尿症细胞株
Description描述：Also has cystathioninuria; donor subject is a compound heterozygote: one allele has a pathogenic G>A transition at nucleotide 755 in exon 7 of the PAH gene [755G>A] resulting in a substitution of glutamine for arginine at codon 252 [Arg252Gln (R252Q)] and a second allele on exon 12 has a pathogenic splice site mutation at nucleotide 1315, c.1315+1G>A [IVS12+1G>A]; HLA type A28,Aw24,B7,Bw35; donor subject is also homozygous for a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 [Thr67Ile (T67I)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM01565
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:16 YR
Gender性别:Female
Cell Type细胞类型: PHENYLKETONURIA | CYSTATHIONINE GAMMA-LYASE; CTH | CYSTATHIONINURIA
Affected State:Yes
Product:LCL
Gene:CTH PAH
Mutations突变:ARG252GLN IVS12DS, G>A, +1 (c.1315+1 G>A) THR67ILE
Ethnicity:
Family:170
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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