NTCC® NA12932 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA12932

Name：NTCC® NA12932 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA12932
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: 9 MO
Gender性别: Female
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Cardiomegaly; muscle biopsy showed vacuolar myopathy with glycogen storage and deficient acid maltase activity; EM ultrastructure studies consistent with diagnosis; parents are GM12930 (mother) and GM12931 (father); expired at age 9 months; donor subject is a compound heterozygote: allele one has missense mutation caused by a T>C transition at nucleotide 1441 (1441T>C) in exon 10 of the GAA gene which results in a substitution of arginine for tryptophan at codon 481 [Trp481Arg (W481R)]; allele two 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 GM03329 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 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