GM18424 NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM18424 NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2 Cell Line
C2 型尼曼匹克病 | NPC2 基因； NPC2细胞株
Description描述：Clinically affected variant; fibroblasts showed 1532 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay [normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr, see Park et al. Hum Mut 22:313-325 (2003)]; fibroblasts were scored as "partial" in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were scored as "other" (see Park et al., 2003); the donor subject carries a mutation at the NPC2 gene locus: allele 1 carries a substitution (G>A) at nucleotide 88 (c.88G>A) in exon 2, resulting in a missense mutation at codon 30 [V30M (VAL30MET)]; the mutation in allele 2 has not been identified; the first nucleotide of the initiating MET codon is numbered +1.
Category分类：Fibroblast
ID编号:NTCC®-GM18424
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:
Age年龄:
Gender性别:Female
Cell Type细胞类型: NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2
Affected State:Yes
Product:Fibroblast
Gene:NPC2
Mutations突变:VAL30MET
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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