Name細胞名稱：NTCC? GM03329 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Cell Line
糖原儲存病 II |葡萄糖苷酶、α、酸； GAA細胞株
Description描述：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錕?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)].
Category分類：Fibroblast
ID編號:NTCC?-GM03329
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: Black/African American
Age年齡:2 YR
Gender性別:Male
Cell Type細胞類型: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Affected State:Yes
Product:Fibroblast
Gene:GAA
Mutations突變:IVS8+1G>A MET519VAL
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net