NTCC® NA00338 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00338

Name：NTCC® NA00338 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00338
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: 1 MO
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Same subject as GM28622 (iPSC); Infantile onset; Respiratory distress, cardiomegaly, and enlarged liver; a sib died at age 3 months with cardiomegaly; deficient acid-alpha-1,4 glucosidase activity (0.20%); low levels of GAA mRNA; no GAA protein detected by antibody; culture grows poorly; donor subject is homozygous for a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 [Arg854Ter (R854X)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GAA
Disease疾病类型:
Mutations突变: ARG854TER
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