GM23743 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23743 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC B-Lymphocyte Cell Line
鸟氨酸氨甲酰转氨酶缺乏症，高氨血症是由于；场外交易细胞株
Description描述：Subject is clinically affected; Mutation in the OTC gene c.77G.A (p.R26Q); hyperammonemia at 2015 umol/L, no detectable orotic acid or citruliine, elevated glutamine; treatment includes benzoate, citrulline arginine supplements, sodium phenylbuterate, and a protein restricted diet; learning disabilities, mental retardation developmental delay, visual/hearing impairment; neuroloical evaluation findings include reflex abnormalities; Bayley IQ, mental age 0.5 years old.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23743
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:6 YR
Gender性别:Male
Cell Type细胞类型: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
Affected State:Yes
Product:LCL
Gene:OTC
Mutations突变:ARG26GLN
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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