NTCC® NA01619 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01619

Name：NTCC® NA01619 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01619
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: 29 YR
Gender性别: Female
Description描述: INOSINE TRIPHOSPHATASE; ITPA
Remarks: Clinically affected; see GM01617 Fibroblast; deficient RBC ITPase; 20% of normal ITPase activity in lymphoblasts; Neutral Alpha-glucosidase C phenotype=1; donor subject is homozygous for a C>A transversion at nucleotide 94 (94C>A) in exon 2 of the ITPA gene resulting in a proline to threonine substitution at codon 32 [Pro32Thr (P32T)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ITPA
Disease疾病类型:
Mutations突变: PRO32THR
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