GM18387 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® GM18387 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 33 yr; deceased one week before 40th birthday; other family members with NPC; neonatal jaundice; yellow sclera for three days; MRI showed iron deposits, mild sucal widening, and bilateral frontal hyperperfusion; ataxia; vertical gaze palsy; dysarthria; dysphagia; organic affective disorder; sleep walking; moderate movement difficulty; no verbal communication; constant difficulty swallowing; fibroblasts showed 44 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 a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (A>T) at nucleotide 2621 (c.2621A>T) in exon 18, resulting in a missense mutation at codon 874 [D874V (ASP874VAL)]; allele 2 carries a substitution (C>G) at nucleotide 2670 (c.2670C>G) in exon 18, resulting in a nonsense mutation at codon 890 [Y890X (TYR890TER)]; the subject also carries the following polymorphisms: (T>C) at nucleotide 387 (387T>C) resulting in a silent mutation (Y>Y) at codon 129 [Y129Y, (TYR129TYR)]; (C>G) at nucleotide 1926 (1926C>G) in exon 12 resulting in a missense mutation (I>M) at codon 642 [I642M (ILE642MET)]; IVS12+8(G)9-14; 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®-GM18387
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:ASP874VAL TYP890TER
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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