Name細胞名稱：NTCC? GM00338 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：Same subject as GM28622 (iPSC); Infantile onset; Respiratory distress, cardiomegaly, and enlarged liver; a sib died at age 3 months with cardiomegaly; deficient acid-alpha-1,4 glucosidase activity (0.20%); low levels of GAA mRNA; no GAA protein detected by antibody; culture grows poorly; donor subject is homozygous for 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)]
Category分類：Fibroblast
ID編號:NTCC?-GM00338
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:1 MO
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:ARG854TER
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
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