GM01935糖原储存病 II |葡萄糖苷酶、α、酸； GAA成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM01935 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Cell Line
糖原储存病 II |葡萄糖苷酶、α、酸； GAA细胞株
Description描述：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)].
Category分类：Fibroblast
ID编号:NTCC®-GM01935
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: Black/African American
Age年龄:30 YR
Gender性别:Female
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Affected State:Yes
Product:Fibroblast
Gene:GAA
Mutations突变:ARG854TER ASP645GLU THR927ILE VAL816ILE
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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