GM17911尼曼匹克病，C1 型； NPC1 | NPC1 基因； NPC1 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17911 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 age 7 mo; deceased at age 10 yr; family history of NPC; clumsy; learning difficulties; normal hearing; ataxia; vertical gaze palsy; dysarthria; cataplexy; dysphagia; breathing difficulties; pneumonia; epilepsy (grand mal seizures); walks with assistance while outside only; constant difficulty swallowing; fibroblasts showed 40 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 of the type 1 complementation group (see Park et al., 2003); the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21, resulting in a missense mutation at codon 1061 [I1061T (ILE1061THR)]; allele 2 carries a substitution (C>T) at nucleotide 3107 (c.3107C>T) in exon 21, resulting in a missense mutation at codon 1036 [T1036M (THR1036MET)]; the subject also carries the following polymporphisms: T>C at nucleotide 387 (c.387T>C) resulting in no change (Y>Y) at codon 129 [Y129Y, (TYR129TYR)]; A>G at nucleotide 644 (c.644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 [H215R (HIS215ARG)]; and A>G at nucleotide 2572 (c.2572A>G) resulting in a substitution of valine for isoleucine (I>V) at codon 858 [I858V (ILE858VAL)]; the first nucleotide of the initiating Met codon is numbered +1.
Category分类：Fibroblast
ID编号:NTCC®-GM17911
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: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:ILE1061THR THR1036MET
Ethnicity:
Family:2247
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
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