NTCC® NA20091 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20091

Name：NTCC® NA20091 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20091
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 MO
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Clinically affected; presented at birth with bilateral severe cleft lip and palate, deep sacral dimple, and bilateral hydrocele; hypertrophic cardiomyopathy; hypotonia, head lag, and hepatomegaly noted at age 2 months; deficiency of acid alpha-glucosidase in fibroblasts (0.2 versus control of 31 nmoles substrate hydrolyzed/mg protein); high-resolution chromosomes normal; died at age 14 months; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 172 in exon 2 of the GAA gene [172C>T] resulting in a substitution of a termination codon for glutamine at codon 58 [Gln58Stop(Q58X)] and a second allele has a single nucleotide deletion (threonine) at position 525 in exon 2 of the GAA gene [del525T].
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: 1-BP DEL, 525T GLN58TER
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