GM23150尼曼匹克病，C1 型； NPC1 | NPC1 基因； NPC1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23150 NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1 B-Lymphocyte Cell Line
尼曼匹克病，C1 型； NPC1 | NPC1 基因； NPC1细胞株
Description描述：Clinically affected; splenomegaly; vertical supranuclear gaze palsy; joint laxity/hypotonia; apraxia; expressive language diminished; seizures; abnormal raspy voice; eczema; macrocephaly; developmental delays; gait ataxia; cataplexy; elevated urine carnosine (117 umol/g cr); cultured fibroblasts from this subject show zero cholesterol esterification; donor subject is heterozygous for a splice site mutation: a G>T transversion at the +1 position in intron 2 of the NPC1 gene [IVS2+1G>T]; no other mutation has as yet been identified
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23150
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:3 YR
Gender性别:Female
Cell Type细胞类型: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Affected State:Yes
Product:LCL
Gene:NPC1
Mutations突变:IVS2+1G>T
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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