Name細胞名稱：NTCC? GM28942 UBA5-RELATED DISORDER | UBIQUITIN-LIKE MODIFIER ACTIVATING ENZYME 5; UBA5 B-Lymphocyte Cell Line
UBA5 相關疾病 |泛素樣修飾劑激活酶 5；烏巴5細胞株
Description描述：Clinically affected. See "Phenotypic Data" tab; fibro sample- GM28857; unaffected carrier parents are GM28856(fibro)/GM28954(LCL) and GM28858 (fibro)/GM28953(LCL)
Category分類：B-Lymphocyte
ID編號:NTCC?-GM28942
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: Asian
Age年齡:2 YR
Gender性別:Male
Cell Type細胞類型: UBA5-RELATED DISORDER | UBIQUITIN-LIKE MODIFIER ACTIVATING ENZYME 5; UBA5
Affected State:Yes
Product:LCL
Gene:AP4S1 COQ7 UBA5
Mutations突變:c.169 A>G (p.Met57Val) c.341G>A (p.Trp114X) c.508-8T>G c.935 A>T (p.Gln312Leu)
Ethnicity:Vietnamese
Family:NIGMS00009
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 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
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