GM23653 CITRULLINEMIA, CLASSIC | ARGININOSUCCINATE SYNTHETASE 1; ASS1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23653 CITRULLINEMIA, CLASSIC | ARGININOSUCCINATE SYNTHETASE 1; ASS1 B-Lymphocyte Cell Line
瓜氨酸血症，经典 |精氨酸琥珀酸合成酶1； ASS1细胞株
Description描述：Clinically affected; diagnosed at newborn screening; symptom onset at age 9; past hyperammonemic events; donor subject is homozygous for a C>T transition at nucleotide 910 in exon 13 of the ASS1 gene resulting in the substitution of tryptophan for arginine at codon 304 [Arg304Trp (R304W)];10 fold elevation above mean of citrulline in plasma; normal neurological evaluation at age 4; treatments include: citrulline arginine supplement, sodium phenylbutyrate, and protein restriction.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23653
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: Hispanic/Latino
Age年龄:2 YR
Gender性别:Female
Cell Type细胞类型: CITRULLINEMIA, CLASSIC | ARGININOSUCCINATE SYNTHETASE 1; ASS1
Affected State:Yes
Product:LCL
Gene:ASS1
Mutations突变:ARG304TRP
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
Tel电话：400-800-2947
Email：Biovector@163.com
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