GM23154尼曼匹克病，C1 型； NPC1 | NPC1 基因； NPC1 |弗拉塔辛； FXN B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23154 NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1 | FRATAXIN; FXN B-Lymphocyte Cell Line
尼曼匹克病，C1 型； NPC1 | NPC1 基因； NPC1 |弗拉塔辛； FXN细胞株
Description描述：Clinically affected; weight loss; slow swallowing; frequent partial seizures; disturbed sleep patterns; suspected hypnopompic hallucinations; hypersomnolent; limb weakness; difficulty with coordination; often sad, restless, irritable or angry; progressive ataxia and dystonia; ataxic dysarthria; speech has become less intelligible; vertical and early horizontal supranuclear gaze palsy; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1211 in exon 8 of the NPC1 gene (c.1211G>A) resulting in the substitution of glutamine for arginine at codon 404 [Arg404Gln (R404Q)] and the second allele has a C>G transversion at nucleotide 3019 in exon 20 (c.3019C>G) resulting in the substitution of alanine for proline at codon 1007 [Pro1007Ala (P1007A)]; donor subject is also heterozygous for an expanded GAA tracked in the FRDA gene (FXN): the expanded allele has 196 GAA repeats
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23154
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:12 YR
Gender性别:Male
Cell Type细胞类型: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1 | FRATAXIN; FXN
Affected State:Yes
Product:LCL
Gene:FXN NPC1
Mutations突变:(GAA)n EXPANSION ARG404GLN PRO1007ALA
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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