NTCC® NA03329 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA03329

Name：NTCC® NA03329 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03329
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: 2 YR
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Infantile onset; normal size (3.6 kb) and amount of mRNA for GAA, GAA protein detected by antibody, but deficient acid-alpha-1,4 glucosidase (0.35%); hypotonia; donor subject is a compound heterozygote with only one allele expressed: allele one carries a A>G transition at nucleotide 1555 (1555A>G) in exon 11 which results in a substitution of valine for methionine at codon 519 [Met519Val (M519V)]; allele two (the silent allele) contains a G>A transition at the first nucleotide of intron 8 (IVS8+1G>A) of the GAA gene which results in a splicing defect at the 5锟?donor site; this rare allele was also found in GM12932 and 18 polymorphisms in the GAA gene were identical in both lines suggesting common ancestry (Raben et al. Hum. Mutat. 13:83-84 (1999)].
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: IVS8+1G>A MET519VAL
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