Name細胞名稱：NTCC? GM18455 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; the donor subject is a compound heterozygote at the NPC2 gene locus: allele 1 carries a substitution (G>T) at nucleotide 58 (c.58G>T) in exon 1, resulting in a nonsense mutation at codon 20 [E20X (GLU20TER)]; allele 2 carries a substitution (G>T) at nucleotide 140 (c.140G>T) in exon 2, resulting in a missense mutation at codon 47 [C47F (CYS47PHE)]; the first nucleotide of the initiating MET codon is numbered +1; fibroblasts showed no detectable activity in a cholesterol esterification assay; a complementation test showed that the cells were type 2 [see Park et al. Hum Mut 22:313-325 (2003)]. This fibroblast is a characteristically poor grower and will only be shipped frozen; requires particular care during growth; the recommended seeding density is 15,000 to 20,000 cells per cm2.
Category分類：Fibroblast
ID編號:NTCC?-GM18455
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:CYS47PHE GLU20TER
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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