Name細胞名稱：NTCC? GM23685 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC B-Lymphocyte Cell Line
鳥氨酸氨甲酰轉氨酶缺乏癥，高氨血癥是由于；場外交易細胞株
Description描述：Clinically affected; symptom onset at age 1 day; past hyperammonemic events; cerebral palsy; communication disorder; mental retardation with developmental delay; learning disabilities; liver transplant; neurological evaluation showed tone changes and muscle contractures; hemizygous for a T>C transition at nucleotide 479 in exon 5 of the OTC gene (c.479T>C) resulting in the substitution of threonine for isoleucine at codon 160 [Ile160Thr (I160T)]; treatments include: citrulline arginine supplement, sodium phenylbutyrate, and protein restriction;
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23685
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: Black/African American
Age年齡:6 YR
Gender性別:Male
Cell Type細胞類型: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
Affected State:Yes
Product:LCL
Gene:OTC
Mutations突變:ILE160THR
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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