GM20018 FARBER LIPOGRANULOMATOSIS | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20018 FARBER LIPOGRANULOMATOSIS | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1 Skin, Unspecified 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; joint lesions containing subcutaneous nodules; hoarseness; hepatosplenomegaly; trachael compression; died at 22 months; AC activity in cultured skin fibroblasts was 5% of normal levels; donor subject is homozygous for a C>A transversion at nucleotide 665 in exon 9 of the ASAH gene [665C>A] resulting in a subsitution of lysine for threonine at codon 222 [Thr222Lys(T222K)]. Donor subject is a compound heterozygote for two polymorphisms: one allele has a A>G transition at nucleotide 214 in exon 3 of the ASAH gene [214A>G] resulting in a substitution of valine for methionine at codon 72 [Met72Val(M72V)] and a second allele has a G>A transition at nucleotide 277 in exon 4 of the ASAH gene [277G>A] resulting in a substitution of isoleucine for valine at codon 93 [Val93Ile(V93I)].
Category分类：Fibroblast
ID编号:NTCC®-GM20018
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:Female
Cell Type细胞类型: FARBER LIPOGRANULOMATOSIS | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
Affected State:Yes
Product:Fibroblast
Gene:ASAH
Mutations突变:THR222LYS
Ethnicity:BELGIAN
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) 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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