NTCC® NA11195 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11195

Name：NTCC® NA11195 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11195
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: 8 YR
Gender性别: Male
Description描述: PHENYLKETONURIA
Remarks: Clinically affected; hyperphenylalaninemia; donor subject is a compound heterozygote with two pathogenic mutations: one allele has a 23-bp deletion in exon 6 at nucleotide 590 (c.590_612del23; 590_612del23) and a second allele has a splice site mutation in exon 8 at nucleotide 912 (c.912+1G>A; IVS8+1G>A]; similarly affected brother (GM11196, lymph).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PAH
Disease疾病类型:
Mutations突变: 23-BP DEL, NT590 (c.590_612del23) IVS8+1G>A (c.912+1G>A)
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