NTCC® NA22113 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22113

Name：NTCC® NA22113 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22113
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: 7 YR
Gender性别: 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其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PCCB
Disease疾病类型:
Mutations突变: 12-BP INS, 14-BP DEL, NT1218
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