NTCC® NA14407 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA14407

Name：NTCC® NA14407 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA14407
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: 20 MO
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE II
Remarks: Clinically affected; moderate myopathy; mild cardiomyopathy; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 871 of the GAA gene (c.871C>T) resulting in the substitution of phenylalanine for leucine at codon 291 [Leu291Phe (L291F)]; the second allele has a T>C transition at nucleotide 1441 in exon 10 (c.1441T>C) resulting in the substitution of arginine for tryptophan at codon 481 [Trp481Arg (W481R)]; 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: LEU291PHE TRP481ARG
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