NTCC® NA01935 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01935

Name：NTCC® NA01935 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01935
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: 30 YR
Gender性别: Female
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: Adult form; onset of generalized muscle wasting & weakness at age 30; history of amenorrhea & hypertension; normal size and amount of mRNA for GAA, GAA protein detected by antibody, but deficient acid-alpha-1,4 glucosidase (0.14%); donor subject is a compound heterozygote with only one allele expressed: allele one (the silent allele) carries 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)]; allele two carries three amino acid substitutions: (1) a missense mutation caused by a C>A transversion at nucleotide 1935 in exon 14 (1935C>A) which results in substitution of glutamic acid for aspartic acid at codon 645 [Asp645Glu (D645E)] and accounts for the defects in transport, phosphorylation, and proteolytic processing of the alpha-glucosidase; (2) a G>A transition at nucleotide 2446 (2446G>A) in exon 17 which results in a polymorphism {a substitution of isoleucine for valine at codon 816 [Val816Ile (V816I)]}; and (3) a C>T transition at nucleotide 2780 (2780C>T) in exon 19 which results in a substitution of isoleucine for threonine at codon 927 [Thr927Ile (T927I)].
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 ASP645GLU THR927ILE VAL816ILE
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