GM22230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® GM22230 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; diagnosed at age 10 1/2 years; neonatal jaundice; yellow sclerae for five days; enlarged spleen detected at age 5 years; clumsiness at age 7 years; learning difficulties beginning at age 8 years; ataxia observed at age 7-8 years; vertical gaze palsy observed at age 10 years; dysarthria observed at age 10 years; dysphagia detected at age 10 years; mild coughing when eating; mild cataplexy controlled by methylphenidate; affected sister is GM22229; donor subject is a compound heterozygote: one allele has an intronic mutation (IVS21-2A>G); the second allele has a C>T change at nucleotide 2932 in exon 20 of the NPC1 gene (2932C>T) resulting in the substitution of cysteine for arginine at codon 978 [Arg978Cys (R978C)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22230
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:10 YR
Gender性别:Male
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:ARG978CYS IVS21-2A>G
Ethnicity:ITALIAN/PORTUGUESE/ENGLISH/SCOTTISH/IRISH
Family:2811
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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