NTCC® NA14526 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA14526

Name：NTCC® NA14526 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA14526
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: 17 YR
Gender性别: Female
Description描述: GLYCOGEN STORAGE DISEASE II
Remarks: Clinically affected; juvenile onset; donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2; the second allele has a 2 bp deletion at nucleotide 2815 (c.2815_2816delGT) resulting in a frameshift and premature stop [Val939fsX78]; also identified in this subject is a third mutation of unknown disease effect: a G>A transition at nucleotide 448 (c.448G>A) resulting in the substitution of threonine for alanine at codon 150 [Ala150Thr (A150T)]; cross-reactive immunological material (CRIM)-positive status confirmed by Western blot and GAA sequencing analyses(PMID:24044919).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GAA
Disease疾病类型:
Mutations突变: 2815_2816delGT IVS1AS, T>G, -13
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