NTCC® NA01565 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01565

Name：NTCC® NA01565 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01565
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 16 YR
Gender性别: Female
Description描述: PHENYLKETONURIA | CYSTATHIONINE GAMMA-LYASE; CTH | CYSTATHIONINURIA
Remarks: 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)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CTH PAH
Disease疾病类型:
Mutations突变: ARG252GLN IVS12DS, G>A, +1 (c.1315+1 G>A) THR67ILE
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net