GM00110 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® GM00110 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：Variant; 24% - 50% of normal sphingomyelinase activity; a brother died of Niemann-Pick at age 11; fibroblasts show impaired cholesterol esterification; the donor subject is a compound heterozygote; one allele carries a missense mutation C>T at nucleotide 709 (709C>T) in exon 6 of the NPC1 gene, resulting in a substitution of a serine for a proline at codon 237 [Pro237Ser (P237S)]; the second allele carries a 6 bp deletion in exon 14: 2215(or 2217)delTCCTTT(or CTTTTC) which results in the in frame deletion of 2 amino acids (740F,741S)
Category分类：Fibroblast
ID编号:NTCC®-GM00110
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:Male
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:2215(or 2217)delTCCTTT(or CTTTTC) ILE1061THR
Ethnicity:
Family:
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
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