NTCC® NA22366 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22366

Name：NTCC® NA22366 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22366
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: 11 MO
Gender性别: Female
Description描述: PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Remarks: Clinically affected; diagnosed at 19 days of age by newborn screen; no family history; gut motility is normal; eats by mouth; not yet walking; on levocarnitine and metabolic formula; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 667 of the PCCA gene (667G>A) resulting in the substitution of lysine for glutamic acid at codon 233 [Glu233Lys (E233K)]; the second allele has a G>T change at nucleotide 1355 (1355G>T) resulting in a substitution of valine for glycine at codon 452 [Gly452Val (G452V)]
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: GLU233LYS GLY452VAL
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