Name：NTCC? NA22581 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA22581
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物種來源:
Age年齡: 9 YR
Gender性別: Female
Description描述: PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Remarks: Clinically affected; no family history; failure to thrive; acute pancreatitis; port-a-cath in place; normal gut motility; fed by G-tube; infrequent vomiting; basal ganglia damage; acute neutropenia; acute anemia; immunodeficiency treated with IVIG; acutely low platelets; broken arm; short stature; began walking at 2 years of age; began talking at 3.5 years of age; language significantly below age level; cognitive ability moderately impaired; episodes of ketoacidosis once a week or more; chronic hyperammonemia <2 times normal; currently on metabolic formula; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 418 of the PCCA gene (c.418delC) resulting in a frameshift (H140fs) and the second allele has a 3 bp deletion at nucleotide 1593 in exon 18 (1593_1595delATT) resulting in a frameshift and stop at codon Leu532
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: PCCA
Disease疾病類型:
Mutations突變: 1593_1595delATT 418delC
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