GM18436 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® GM18436 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; abdominal distension; diagnosed at 14 months; alive at 7 year; colic at 5 months; mild neonatal jaundice; normal development; hepatosplenomegaly; liver biopsy shows storage in Kupffer cells consistent with NP; clumsy; learning difficulties; ataxia; vertical gaze palsy; dysarthria; cataplexy; dysphagia; gastrostomy; asthma; seizures; sleeping problems; wheelchair bound; absent communication; fibroblasts showed no detectable activity in a cholesterol esterification assay; donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (A>C) at nucleotide 1836 (c.1836A>C) in exon 10, resulting in a missense mutation at codon 612 [Glu612Asp (E612D)]; allele 2 carries a one base pair deletion at nucleotide 1628 (c.1628delC) in exon 17, results in a frameshift mutation at codon 542 (F542fsX); the subject also carries the following polymorphisms: (A>G) at nucleotide 644 (644A>G) resulting in a missense mutation (H>R) at codon 215 [H215R (His215Arg)]; A>G at nucleotide 2572 (2572A>G) in exon 17 which results in a missense mutation (I>V) at codon 858 [I858V (Ile858Val)]; (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; (C>T) at nucleotide 2793 (2793C>T) resulting in no change (N>N) at codon 931 [N931N (Asn931Asn)]; (T>C) at nucleotide IVS19+28 (IVS19+28T>C) resulting in no change in the predicted amino acid sequence; the first nucleotide of the initiating Met codon is numbered +1.
Category分类：Fibroblast
ID编号:NTCC®-GM18436
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:1 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:c.1628delC GLU612ASP
Ethnicity:CANADIAN/ITALIAN
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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