Name：NTCC? NA22010 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA22010
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 7 YR
Gender性別: 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其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: PCCA
Disease疾病類型:
Mutations突變: G216fs
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net