Name細胞名稱：NTCC? GM23851 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：Subject is asymptomatic; pathogenic mutations identified in the ASS1 gene: c.805 G>A (pV269M), c.814 C>T (p.R272C); diagnosed at newborn screening; treatment includes citrulline arginine supplement.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23851
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: White
Age年齡:1 YR
Gender性別:Male
Cell Type細胞類型: CITRULLINEMIA, CLASSIC | ARGININOSUCCINATE SYNTHETASE 1; ASS1
Affected State:At Risk
Product:LCL
Gene:ASS1
Mutations突變:c.805G>A c.814C>T
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:

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