Name細胞名稱：NTCC? GM18429 NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2 Cell Line
C2 型尼曼匹克病 | NPC2 基因； NPC2細胞株
Description描述：Clinically affected; fibroblasts showed 21 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)]; a complementation test showed that the cells were type 2 (see Park et al., 2003); the donor subject is homozygous at the NPC2 gene locus: both alleles carry a substitution (T>C) at nucleotide IVS1+2 (g.IVS1+2T>C) in intron 1, resulting in a splicing defect; the first nucleotide of the initiating MET codon is numbered +1.
Category分類：Fibroblast
ID編號:NTCC?-GM18429
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race:
Age年齡:
Gender性別:Male
Cell Type細胞類型: NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2
Affected State:Yes
Product:Fibroblast
Gene:NPC2
Mutations突變:IVS1+2T>C
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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