Name：NTCC? NA22366 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA22366
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 11 MO
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: PCCA
Disease疾病類型:
Mutations突變: GLU233LYS GLY452VAL
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net