NTCC® NA22208 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22208

Name：NTCC® NA22208 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22208
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: 2 YR
Gender性别: Female
Description描述: PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Remarks: Clinically affected; diagnosed at 3 days of age by newborn screening; failure to thrive; no family history; mitral valve regurgitation; normal gut motility; reflux; no eating by mouth; GJ-tube; vomiting once a month or more; acute neutropenia; chronic anemia; acute low platelets; walked at 16 months of age; talked at age 1 year; mildly impaired cognitive ability; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: allele 1: has a substitution of arginine for lysine at codon 298 in exon 11 of the PCCA gene [Lys298Arg (K298R)] and allele 2: has a deletion of exons 13-20
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: DEL EX13-20 LYS298ARG
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