GM18417尼曼匹克病，C1 型； NPC1 | NPC1 基因； NPC1 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM18417 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：Clinically affected; diagnosed at 25 year 1 month; died at 33 year; walked at 14.5 months; clumsy; learning difficulties; ataxia beginning at 14 year; wheel chair bound at time of death; dysarthria beginning at 17 year; dysphagia beginning at 19 year; gastrostomy beginning at age 30 year; respiratory dysfunction beginning at age 31 year; major depression beginning at age 25 year; sleeping problems beginning at age 22 year; fibroblasts showed 29 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 npc-like in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were type 1 (see Park et al., 2003); the donor subject is homozygous at the NPC1 gene locus: both alleles carry a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21, resulting in a missense mutation at codon 1061 [I1061T (Ile1061Thr)]; the subject also carries the following polymorphism in the NPC1 gene: homozygous substitution (T>C) at nucleotide 387 (c.387T>C) resulting in a silent mutation (Y>Y) at codon 129 [Y129Y, (Tyr129Tyr)]; the first nucleotide of the initiating Met codon is numbered +1. This fibroblast is a characteristically poor grower and will only be shipped frozen; requires particular care during growth; the recommended seeding density is 15,000 to 20,000 cells per cm2.
Category分类：Fibroblast
ID编号:NTCC®-GM18417
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:
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:ILE1061THR
Ethnicity:
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
NTCC典型培养物保藏中心
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