NTCC® NA01454 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01454

Name：NTCC® NA01454 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01454
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: 7 YR
Gender性别: Male
Description描述: CYSTATHIONINURIA | CYSTATHIONINE GAMMA-LYASE; CTH
Remarks: Unresponsive to B6; HLA type A28,A2, Bw40,Bw21; 47,XY,+12/47,XY,+12,add(13) (q34); 48%/52%; random chromosome rearrangements are present; donor subject is homozygous for a 2 bp deletion at nucleotide 940 in exon 8 of the CTH gene (940_941delCT) resulting in the substitution of threonine for leucine at codon 262 {Leu262Thr (L262T)] causing a stop codon at 282
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CTH
Disease疾病类型:
Mutations突变: 2 BP DEL, 940CT
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