GM23407精氨酸血症 |精氨酸酶肝脏； ARG1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23407 ARGININEMIA | ARGINASE LIVER; ARG1 B-Lymphocyte Cell Line
精氨酸血症 |精氨酸酶肝脏； ARG1细胞株
Description描述：Clinically affected; onset of symptoms at age 26 years; neurological evaluation at age one showed no ambulation; five fold elevated above mean arginine level in blood; decreased arginase enzyme level in red blood cells; autism spectrum disorder; communication disorder (speech delay); learning disabilities; mental retardation with developmental delay (gross motor delay and bilateral lower extremity spasticity; on sodium phenylbutyrate; protein restriction; donor subject has a G>A transition at nucleotide 425 in exon 4 of the ARG1 gene resulting in the substitution of glutamic acid for glycine at codon 142 [Gly142Glu (G142E)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23407
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:3 YR
Gender性别:Female
Cell Type细胞类型: ARGININEMIA | ARGINASE LIVER; ARG1
Affected State:Yes
Product:LCL
Gene:ARG1
Mutations突变:GLY142GLU
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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