Name細(xì)胞名稱：NTCC? GM10873 GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA B-Lymphocyte Cell Line
I 型戈謝病 |葡萄糖苷酶，酸性β；大灣區(qū)細(xì)胞株
Description描述：Ashkenazi; mild splenomegaly; 2 affected siblings; about 14% of normal lymph culture acid B-glucosidase activity; donor subject is homozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG]
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM10873
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:79 YR
Gender性別:Male
Cell Type細(xì)胞類型: GAUCHER DISEASE, TYPE I | GLUCOSIDASE, ACID BETA; GBA
Affected State:Yes
Product:LCL
Gene:GBA
Mutations突變:ASN370SER
Ethnicity:ASHKENAZI
Family:
Relationship:proband
Karyotype:
Tissue Type組織來(lái)源:Blood
Complete Growth Medium完全培養(yǎng)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(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(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
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