GM03123 NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03123 NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1 Cell Line
尼曼匹克病，C1 型； NPC1 | NPC1 基因； NPC1细胞株
Description描述：38% of normal sphingomyelinase activity, normal B-galactosidase activity, and impaired cholesterol esterification in fibroblasts; the donor subject is a compound heterozygote; one allele carries a pathogenic splice site mutation c.1947+5G>C (rs770321568, g.41940G>C), as well as a missense mutation c.709C>T [p.Pro237Ser (P237S); rs80358251] in exon 6 of the NPC1 gene; the second allele carries a pathogenic missense mutation c.3182T>C in exon 21 [p.Ile1061Thr (I1061T)] in a luminal domain; same subject as GM03124 (LCL) and GM25864 (stem cell).
Category分类：Fibroblast
ID编号:NTCC®-GM03123
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:9 YR
Gender性别:Female
Cell Type细胞类型: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Affected State:Yes
Product:Fibroblast
Gene:NPC1
Mutations突变:c.1947+5G>C ILE1061THR PRO237SER
Ethnicity:
Family:451
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: 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
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net