NTCC® NA14428 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA14428

Name：NTCC® NA14428 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA14428
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: 38 YR
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE II
Remarks: Clinically affected; adult 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 G>T transversion at nucleotide 1912 (c.1912G>T) resulting in the substitution of tryptophan for glycine at codon 638 [Gly638Trp (G638W)]
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: GLY638TRP 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