GM02315 FARBER LIPOGRANULOMATOSIS | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02315 FARBER LIPOGRANULOMATOSIS | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1 Cell Line
法伯脂肪肉芽肿病 | N-酰基鞘氨醇酰胺水解酶 1； ASAH1细胞株
Description描述：Clinically affected; mild disease (Farber disease subtype 3); late onset of disease at 20 months; died at age 30; a sister with similar clinical history died at age 18; deficient acid ceramidase; donor subject is homozygous for an A>T transversion at nucleotide 413 in exon 6 of the ASAH gene resulting in the substitution of valine for glutamic acid at codon 138 [Glu138Val (E138V)]
Category分类：Fibroblast
ID编号:NTCC®-GM02315
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:7 YR
Gender性别:Female
Cell Type细胞类型: FARBER LIPOGRANULOMATOSIS | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
Affected State:Yes
Product:Fibroblast
Gene:ASAH
Mutations突变:GLU138VAL
Ethnicity:ITALIAN
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: 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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