NTCC® NA23221 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23221

Name：NTCC® NA23221 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23221
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: 30 MO
Gender性别: Male
Description描述: PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Remarks: Clinically affected; newborn screened; eating by mouth; seizures; walked at 15 months of age; talked at 20 months of age; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a 4 bp deletion at nucleotide 1824+3 in intron 21 of the PCCA gene(IVS21+3del4) resulting in the skipping of intron 21 and the second allele has a substitution of cysteine for arginine at codon 243 [Arg243Cys (R243C)]
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: 4-BP DEL, 1824IVS+3 ARG243CYS
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