NTCC® NA22025 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22025

Name：NTCC® NA22025 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22025
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: 9 YR
Gender性别: Male
Description描述: PROPIONIC ACIDEMIA
Remarks: Clinically affected; failure to thrive; normal gut motility; 50% of feeding by mouth; G-tube; infrequent vomitting; seizures; began walking at 18 months of age and is still walking; language is significantly below age level; uses language assisting technology; talked at age two years; cognitive ability moderately impaired; infrequent episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 [Gly112Asp (G112D)] and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs)
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: 1204delG GLY112ASP
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