Name：NTCC? NA22113 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA22113
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: Female
Description描述: PROPIONIC ACIDEMIA
Remarks: Clinically affected; newborn screened and diagnosed at 1 day of age; failure to thrive; affected sister is GM22112; tachypnea; slow gut motility; g-tube; infrequent vomiting; grand mal seizures; acute anemia; immune deficiency; asthma; short stature; broken left arm/elbow; walked at 2 years of age; talked at age 18 months; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: PCCB
Disease疾病類型:
Mutations突變: 12-BP INS, 14-BP DEL, NT1218
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