NTCC® NA22010 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22010

Name：NTCC® NA22010 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22010
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: PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Remarks: Clinically affected; diagnosed in first week of life; no family history of PA; acute pancreatitis; normal gut motility; G-tube for 100% of feeding; vomitting at least once a week; had seizures only during birth crisis; chronic neutropenia; immune deficiency; first walked at 20 months of age; uses assisting language technology; moderately impaired cognitive ability; IQ of 41; chronic hyperammonemia (<2 times normal); currently on metabolic formula and levocarnitine; donor subject is homozygous for a G216fs mutation in exon 8 of the PCCA gene
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PCCA
Disease疾病类型:
Mutations突变: G216fs
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