GM17918 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® GM17918 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 10 yr; deceased at 14 yr; brother with NPC; clumsy; learning difficulties; ataxia; vertical gaze palsy; dysarthria; cataplexy; dysphagia; gastrostomy; breathing difficulties; repeated pneumonia; epilepsy; wheelchair bound; severe difficulty with movement; absence of communication; tube fed; fibroblasts showed 76 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 "NA" in a filipin staining assay (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (C>T) at nucleotide 410 (c.410C>T) in exon 4 resulting in a missense mutation at codon 137 [T137M (THR137MET)]; allele 2 carries an insertion (insT) at nucleotide 2336 (c.2336insT) in exon 15; the subject also carries the following polymorphism: (T>C) at nucleotide 387 (c.387T>C) resulting in no change (Y>Y) at codon 129 [Y129Y, (TYR129TYR)]; the first nucleotide of the initiating Met codon is numbered +1; culture is a slow grower
Category分类：Fibroblast
ID编号:NTCC®-GM17918
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:2336insT THR137MET
Ethnicity:
Family:2245
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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