Name細胞名稱：NTCC? GM23653 CITRULLINEMIA, CLASSIC | ARGININOSUCCINATE SYNTHETASE 1; ASS1 B-Lymphocyte Cell Line
瓜氨酸血癥，經典 |精氨酸琥珀酸合成酶1； ASS1細胞株
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分類：B-Lymphocyte
ID編號:NTCC?-GM23653
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: Hispanic/Latino
Age年齡:2 YR
Gender性別:Female
Cell Type細胞類型: CITRULLINEMIA, CLASSIC | ARGININOSUCCINATE SYNTHETASE 1; ASS1
Affected State:Yes
Product:LCL
Gene:ASS1
Mutations突變:ARG304TRP
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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