Name細胞名稱：NTCC? GM20270 GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA Skin, Unspecified Cell Line
II 型戈謝病 |葡萄糖苷酶，酸性β；大灣區(qū)細胞株
Description描述：Clinically affected; donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 1448 in exon 10 of the GBA gene [1448T>C] resulting in a substitution of proline for leucine at codon 444 [Leu444Pro (L444P)] and a second allele has a splice site mutation in intron 2 of the GBA gene (IVS2+1G>A)
Category分類：Fibroblast
ID編號:NTCC?-GM20270
Size/Quantity數(shù)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: More than one race
Age年齡:4 MO
Gender性別:Female
Cell Type細胞類型: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Affected State:Yes
Product:Fibroblast
Gene:GBA
Mutations突變:IVS2DS, G>A, +1 LEU483PRO (LEU444PRO), 1448T>C
Ethnicity:FILIPINO/AFRICAN
Family:3248
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養(yǎng)基: BioVector? Dulbecco Modified Eagles Medium (high glucose) 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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻:

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