GM02528粘脂血症 IV |葡萄糖苷酶，酸性β；大湾区 |粘脂蛋白 1; MCOLN1 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02528 MUCOLIPIDOSIS IV | GLUCOSIDASE, ACID BETA; GBA | MUCOLIPIN 1; MCOLN1 Cell Line
粘脂血症 IV |葡萄糖苷酶，酸性β；大湾区 |粘脂蛋白1； MCOLN1细胞株
Description描述：Ashkenazi; fibroblasts show grossly abnormal storage bodies and normal levels of acid hydrolases; donor subject is homozygous for an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene [IVS3-2A>G] resulting in the skipping of exon 4; donor subject is also heterozygous 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)]._x000D_
Category分类：Fibroblast
ID编号:NTCC®-GM02528
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:8 MO
Gender性别:Male
Cell Type细胞类型: MUCOLIPIDOSIS IV | GLUCOSIDASE, ACID BETA; GBA | MUCOLIPIN 1; MCOLN1
Affected State:Yes
Product:Fibroblast
Gene:GBA MCOLN1
Mutations突变:ASN370SER IVS3AS,A>G,-2
Ethnicity:ASHKENAZI
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
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